A characteristic symptom complex.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Symptom complex due to ACTH production by non-pituitary neoplasms.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
An infant during the first month after birth.
A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.
An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.
A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
Mandibulofacial dysostosis with congenital eyelid dermoids.
A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
Biochemical identification of mutational changes in a nucleotide sequence.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
Elements of limited time intervals, contributing to particular results or situations.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.
An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.
A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.
A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
The magnitude of INBREEDING in humans.
A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)
A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Disease having a short and relatively severe course.
A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders.
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Actual loss of portion of a chromosome.
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia.
A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)
Mapping of the KARYOTYPE of a cell.
Genes that influence the PHENOTYPE only in the homozygous state.
An individual having different alleles at one or more loci regarding a specific character.
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.
Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.
Congenital craniostenosis with syndactyly.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.
Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).
Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
Abnormally small jaw.
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.
A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
A DNA-binding protein that interacts with methylated CPG ISLANDS. It plays a role in repressing GENETIC TRANSCRIPTION and is frequently mutated in RETT SYNDROME.
Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
A disease of infants due to group 2 phage type 17 staphylococci that produce an epidermolytic exotoxin. Superficial fine vesicles and bullae form and rupture easily, resulting in loss of large sheets of epidermis.
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.

Toxic oil syndrome mortality: the first 13 years. (1/8398)

BACKGROUND: The toxic oil syndrome (TOS) epidemic that occurred in Spain in the spring of 1981 caused approximately 20000 cases of a new illness. Overall mortality and mortality by cause in this cohort through 1994 are described for the first time in this report. METHODS: We contacted, via mail or telephone, almost every living member of the cohort and family members of those who were known to have died in order to identify all deaths from 1 May 1981 through 31 December 1994. Cause of death data were collected from death certificates and underlying causes of death were coded using the International Classification of Diseases, 9th Revision. RESULTS: We identified 1663 deaths between 1 May 1981 and 31 December 1994 among 19 754 TOS cohort members, for a crude mortality rate of 8.4%. Mortality was highest during 1981, with a standardized mortality ratio (SMR) of 4.92 (95% confidence interval [CI]: 4.39-5.50) compared with the Spanish population as a whole. The highest SMR, (20.41, 95% CI: 15.97-25.71) was seen among women aged 20-39 years during the period from 1 May 1981 through 31 December 1982. Women <40 years old, who were affected by TOS , were at greater risk for death in most time periods than their unaffected peers, while older women and men were not. Over the follow-up period, mortality of the cohort was less than expected when compared with mortality of the general Spanish population, or with mortality of the population of the 14 provinces where the epidemic occurred. We also found that, except for deaths attributed to external causes including TOS and deaths due to pulmonary hypertension, all causes of death were decreased in TOS patients compared to the Spanish population. The most frequent underlying causes of death were TOS, 350 (21.1%); circulatory disorders, 536 (32.3%); and malignancies, 310 (18.7%). CONCLUSIONS: We conclude that while on average people affected by toxic oil syndrome are not at greater risk for death over the 13-year study period than any of the comparison groups, women <40 years old were at greater risk of death.  (+info)

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. (2/8398)

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.  (+info)

Why is the retention of gonadotrophin secretion common in children with panhypopituitarism due to septo-optic dysplasia? (3/8398)

Septo-optic dysplasia (De Morsier syndrome) is a developmental anomaly of mid-line brain structures and includes optic nerve hypoplasia, absence of the septum pellucidum and hypothalamo-pituitary abnormalities. We describe seven patients (four female, three male) who had at least two out of the three features necessary for the diagnosis of septo-optic dysplasia. Four patients had hypopituitarism and yet normal gonadotrophin secretion: one of these also had anti-diuretic hormone insufficiency; three had isolated GH deficiency and yet had premature puberty, with the onset of puberty at least a year earlier than would have been expected for their bone age. In any progressive and evolving anterior pituitary lesion it is extremely unusual to lose corticotrophin-releasing hormone/ACTH and TRH/TSH secretion and yet to retain gonadotrophin secretion. GnRH neurons develop in the nasal mucosa and migrate to the hypothalamus in early fetal life. We hypothesise that the arrival of GnRH neurons in the hypothalamus after the development of a midline hypothalamic defect may explain these phenomena. Progress in spontaneous/premature puberty in children with De Morsier syndrome may have important implications for management. The combination of GH deficiency and premature puberty may allow an apparently normal growth rate but with an inappropriately advanced bone age resulting in impaired final stature. GnRH analogues may be a therapeutic option. In conclusion, some patients with De Morsier syndrome appear to retain the ability to secrete gonadotrophins in the face of loss of other hypothalamic releasing factors. The migration of GnRH neurons after the development of the midline defect may be an explanation.  (+info)

Townes-Brocks syndrome. (4/8398)

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.  (+info)

A new lethal syndrome of exomphalos, short limbs, and macrogonadism. (5/8398)

We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, hyperplasia of Leydig cells, ovarian stroma cells, and Langherans cells, and renal microcysts. We suggest that this condition is a new autosomal recessive MCA syndrome different from Beckwith-Wiedemann syndrome, especially as no infracytogenetic deletion or uniparental disomy of chromosome 11 was found.  (+info)

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region. (6/8398)

We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at theta=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.  (+info)

Homozygosity mapping to the USH2A locus in two isolated populations. (7/8398)

Usher syndrome is a group of autosomal recessive disorders characterised by progressive visual loss from retinitis pigmentosa and moderate to severe sensorineural hearing loss. Usher syndrome is estimated to account for 6-10% of all congenital sensorineural hearing loss. A gene locus in Usher type II (USH2) families has been assigned to a small region on chromosome 1q41 called the UHS2A locus. We have investigated two families with Usher syndrome from different isolated populations. One family is a Norwegian Saami family and the second family is from the Cayman Islands. They both come from relatively isolated populations and are inbred families suitable for linkage analysis. A lod score of 3.09 and 7.65 at zero recombination was reached respectively in the two families with two point linkage analysis to the USH2A locus on 1q41. Additional homozygosity mapping of the affected subjects concluded with a candidate region of 6.1 Mb. This region spans the previously published candidate region in USH2A. Our study emphasises that the mapped gene for USH2 is also involved in patients from other populations and will have implications for future mutation analysis once the USH2A gene is cloned.  (+info)

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. (8/8398)

An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.  (+info)

Pashayan syndrome also known as Pashayan-Prozansky Syndrome, and blepharo-naso-facial syndrome is a rare syndrome. Facial abnormalities characterise this syndrome as well as malformation of extremities. Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed. A subset of Pashayan syndrome has also been described, known as cerebrofacioarticular syndrome, Van Maldergem syndrome or Van Maldergem-Wetzburger-Verloes syndrome. Similar symptoms are noted in these cases as in Pashayan syndrome. OMIM Entry - 110050 - BLEPHARONASOFACIAL MALFORMATION SYNDROME. omim.org. Retrieved 4 August 2017. Bissonnette, Bruno; Luginbuehl, Igor; Dalens, Bernard J.; Marciniak, Bruno (2006). Bruno Bissonnette, ed. Syndromes: rapid recognition and perioperative management. McGraw-Hill. ISBN 978-0-07-135455-4. [page needed] Stoll (1999). A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome. ...
Sleeping Beauty Syndrome may sound like a problem for a Disney princess, but life is no fairy tale for a real woman suffering from the condition. Beth Goodier was diagnosed with Klein-Levin syndrome, which causes her to fall asleep for months at a time.
John Egan has dismissed talk of Sheffield United suffering second season syndrome but insists the club cannot rest on their laurels after taking the Premier League by storm.. United were installed among the relegation favourites following promotion from the Championship in 2019 before defying the odds to secure a top-half finish.. Chris Wilders Blades began the new campaign with a 2-0 home defeat to Wolves and will look to bounce back at Aston Villa on Monday evening.. Defender Egan, who has played a key role in the South Yorkshire sides remarkable rise, is unconcerned by suggestions the team may struggle to replicate the achievements of last term.. All I hear about is second season syndrome, getting asked that. But as a player you dont even think about it, it doesnt even cross your mind, said Egan.. I am sure that is the same for the rest of the players here.. You just look forward to the next game, in the Premier League you cant look too far ahead or you cant look behind you ...
Change in Placebo Corrected Change From Baseline QTc and J-Tpeakc Intervals on the ECG Measured in Milliseconds When Dofetilide is Administered With Mexiletine or Lidocaine Compared to When Dofetilide is Administered Alone at Evening Dose on Treatment ...
The White House has acknowledged that mysterious health incidents have been occurring in the U.S. and not just overseas. The illnesses are called Havana syndrome.
Reagents for the antigen WASP / Wiskott-Aldrich Syndrome stained with Horseradish Peroxidase (HRP) in the Antibody Database
Reagents for the antigen WASP / Wiskott-Aldrich Syndrome stained with Unconjugated (Culture supernatant) in the Antibody Database
The causes of broken heart syndrome remain a mystery, but doctors will soon have an easier time recognizing and treating this rare
Click on a [studies] link to search within your current results for studies in that region. Use the back button to return to this list and try another region ...
show_more_start. HOXA1 is the most 3 HOX gene in cluster A and the first HOX gene expressed in mammals. It is also among the first genes expressed in the central nervous system, and accordingly, plays a critical role in brain and head development. HOXA1 is primarily responsible for segmenting the embryonic hindbrain into seven transient compartments called rhombomeres. Each rhombomere has a distinct set of molecular and cellular properties that is necessary for organizing groups of immature neurons into functional networks that will eventually mediate important functions such as breathing, eye movement, and mastication.. Our lab has recently discovered that homozygous loss of HOXA1 function in humans can result in a group of disorders called the HOXA1-related syndromes. Although the phenotypes of patients with homozygous HOXA1 mutations are variable and depend upon ethnicity, affected individuals all have bilateral Duane syndrome type III, a horizontal eye movement disorder that results in ...
Access the 1990 case definition for Rubella, congenital syndrome, a set of uniform criteria used to define a disease for public health surveillance.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V. Epilepsy in KCNH1-related syndromes. Epileptic disorders : international epilepsy journal with videotape 18 (2) : 123 - 36(2016) PubMed ...
Exploding head syndrome is a real thing suffered by many college students, and it may not be what you think.. Symptoms dont include ones head actually exploding, but it refers to the startling illusion of hearing a massive blast inside your head just as you are falling asleep.. According to a study published by Washington State University psychologists, its most often found among college students. Overall, one-in-five of the 211 undergraduate college students interviewed for the study suffer from the syndrome, the researchers found.. At present there are little systematic data on exploding head syndrome, and prevalence rates are unknown, said the U.S. National Health Institute agency. Exploding head syndrome episodes were accompanied by clinically significant levels of fear, it added.. The researchers think the disorder takes place due to problems when the brain is shutting down for sleep, and ones auditory neurons fire all at once.. Professor Brian Sharpless said this could be behind ...
Synonym(s): CGS Contiguous gene syndrome (CGS) is a group of genetic disorders caused by loss-of-function mutation in several genes lying in close proximity to one another. Most often rearrangements, deletions and duplications, are the cause.. ...
The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases of 2p15p16.1 microdeletion syndrome have been reported in the literature; however, the size of the deletions and their breakpoints vary, making it difficult to identify the candidate genes. Recent reports pointed to 4 genes (XPO1, USP34, BCL11A, and REL) that were included, alone or in combination, in the smallest deletions causing the syndrome. Here, we describe 8 new patients with the 2p15p16.1 deletion and review all published cases to date. We demonstrate functional deficits for the above 4 candidate genes using patients lymphoblast cell lines (LCLs) and knockdown of their orthologs in zebrafish. All genes were dosage sensitive on the basis of reduced protein expression in LCLs. In addition, deletion of XPO1, a nuclear exporter, cosegregated with nuclear accumulation of one of ...
49 XXXXX syndrome, is a rare genetic condition. This condition results from a mutation or error in a persons DNA or genes. Sometimes people have been misdiagnosed with Downs syndrome when the actually have 49 XXXXX syndrome because of the similarities in symptoms between the two syndromes. 49 XXXXX syndrome can cause birth defects such as short stature, mental retardation or craniofacial (bones of the skull and face) abnormalities, as well as hyperextension of the elbows, deformities of the feet and cardiac defects. Although there is currently no cure for 49 XXXXX syndrome, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by 49 XXXXX syndrome ...
What is Sjögrens syndrome?. Sjögrens syndrome (say SHOW-grins) is a disorder in which the immune system attacks the bodys moisture-producing glands, such as the tear glands and the saliva glands. These glands may become scarred and damaged, and extreme dryness in the eyes and mouth (sicca syndrome) may develop. Sjögrens syndrome may also cause fatigue, pain in the joints, and, in rare cases, problems with the function of vital organs, such as the lungs, kidneys, and nerves.. Sjögrens syndrome is an autoimmune disease, in which a persons immune system attacks its own tissues as though they were foreign substances. Women and men of all races may develop this disorder. But Sjögrens is more common in white women who are in their 40s and 50s.. What causes Sjögrens syndrome?. The exact cause of Sjögrens syndrome is not known. A combination of genetic and environmental factors may cause this disorder. Heredity may be a factor, since Sjögrens syndrome sometimes runs in families. ...
Eagle-Barrett Syndrome. Diagnostic. Eagle-Barrett Syndrome Doctors. Eagle-Barrett Syndrome Explained. Eagle-Barrett Syndrome. Diagnostic strategies. Eagle-Barrett Syndrome Doctors and Specialists. Find List of Medicine. Eagle-Barrett Syndrome. Find a Doctor Eagle-Barrett Syndrome. Ask a Doctor Online. Eagle-Barrett Syndrome. Find a Eagle-Barrett Syndrome Doctor. The modern practice of medicine occurs at the many interfaces between the art of healing and various sciences. Medicine is directly connected to the health sciences and biomedicine. Broadly speaking, the term Medicine today refers to the fields of clinical medicine, medical research and surgery, thereby covering the challenges of disease and injury. Virtual community for health care professionals providing a number of ways for the exchange of ideas and opinions with other experienced professionals, and facilitating easy access to information. Medicine is the practice of maintaining and restoring human health through the study, diagnosis, and
The research team will now investigate brain activity patterns in the people with happy heart syndrome and compare those patterns to those found in people with broken heart syndrome to learn more about the interactions between the heart and the brain. For now, its unclear exactly how a persons emotional states play a role in the development of this heart-muscle weakening condition ...
Baller Gerold Syndrome is an extremely rare congenital defect occurring in 1 in a million live births. At present this syndrome can only be diagnosed after birth. The typical characteristics of Baller Gerold syndrome often overlap with those of another disorder, the Rothmund Thomson syndrome which has led scientists to conclude that it is the same gene or group of Friedrich Baller in 1950 and M. Gerold in 1959 reported this syndrome was reported in the German medical literature. Since then, less than 50 cases have been reported. ...
Metabolic syndrome is a group of disorders and symptoms that when present increases ones risk of coronary artery disease and stroke. These disorders include type 2 diabetes (where fasting blood sugar is greater than or equal to 110mg/dl), hypertension (where blood pressure is greater than or equal to 130/85mmHg), hypertriglyceridemia (where triglycerides are greater than or equal to 150mg/dl), low high-density lipoprotein (HDL) cholesterol (where the HDLs are equal to or lower than 40mg/dl for men and equal to or lower than 50mg/dl in women), and abdominal obesity (where waist circumference is greater than 40 inches in men and greater than 35 inches in women). The following questions and answers will further explain this disorder.. How are high blood pressure, type 2 diabetes, high triglycerides and low high- density lipoproteins (HDLs or good cholesterol) with abdominal obesity related? It starts with insulin resistance, which is a reduced sensitivity of the bodys tissues, primarily the ...
Casting a music video Little Brother Syndrome. Company states: The Fatty Acids are a Milwaukee band of 6 years now. The video is a sardonic look at the way
These three sisters in India have dreams of getting married, but are caught in a nightmare - each is cursed with an extremely rare genetic disorder sometimes...
TEE is highly accurate for the detection of acute aortic syndromes as a result of the close proximity of the esophagus to the thoracic aorta and its ability to visualize both ascending and descending aortas and parts of the arch with high spatial resolution in real time. TEE is performed with a 2.5 to 7.5 MHz transducer that is mounted at the end of a gastroscopic probe. Generally, TEE imaging of the aorta begins with the probe behind the left atrium, and the proximal 5 to 10 cm of the ascending aorta is visualized by scanning at a 120° imaging plane. By imaging at a 40° to 60° plane, TEE allows simultaneous short-axis visualization of the aortic cusps and the 3 sinuses. When evaluating the ascending aorta, artifactual echoes are often encountered, but a well-trained echocardiographer should be able to discriminate this from true dissection. A true dissection flap often displays random mobility, especially when the dissection is acute, whereas an artifact has a more rigid and fixed location ...
TEE is highly accurate for the detection of acute aortic syndromes as a result of the close proximity of the esophagus to the thoracic aorta and its ability to visualize both ascending and descending aortas and parts of the arch with high spatial resolution in real time. TEE is performed with a 2.5 to 7.5 MHz transducer that is mounted at the end of a gastroscopic probe. Generally, TEE imaging of the aorta begins with the probe behind the left atrium, and the proximal 5 to 10 cm of the ascending aorta is visualized by scanning at a 120° imaging plane. By imaging at a 40° to 60° plane, TEE allows simultaneous short-axis visualization of the aortic cusps and the 3 sinuses. When evaluating the ascending aorta, artifactual echoes are often encountered, but a well-trained echocardiographer should be able to discriminate this from true dissection. A true dissection flap often displays random mobility, especially when the dissection is acute, whereas an artifact has a more rigid and fixed location ...
This is not really a syndrome and I do not know the official terminology for it. It is an unusual, localized snarl of blood vessels in the brain. My mothers brother had it, and started having seizures in his twenties; they operated and left him paralyzed, but thats another story (and a cruder age for brain surgery). My mothers mother had it and never developed any problems, seizures or otherwise, but had it removed in the late seventies anyway, apparently because that sort of preventative operation was popular in the medical profession at the time. I have a friend, a research psychologist, who has told me that I may well have this problem too, since two of my close family members have (Moms never wanted to find out if she has it, so I dont know). My friend also informed me that a) if I havent had problems with it yet, I am unlikely to (Im about 30), and b) if I ever *did* start to have problems, they would undoubtedly come on gradually, in the form of seizures and so forth. I just ...
Living with AIDS for most his adult life, the main character, Elliot Liteman is one of those survivors, feeling alone and cursed by his situation.. Lazarus might be a figure in the New Testament, the man who Jesus brought back from the dead, but the play highlights Jewish family, tradition, and most importantly, Jewish humor in spite of tragedy.. It might have been difficult for a cast of gentiles to take on the role of a Jewish family, speaking glibly about traditional Jewish food and singing Yiddish folk songs, but what was even more important to get right is the line between tragedy and comedy.. SNAP Productions Lazarus Syndrome, by Bruce Ward, directed by M. Michele Philips, opens Friday, June 1st at 8:00pm with showings Fridays, Saturdays and Sundays. SNAP Productions is located at 3225 California Street. For more information or tickets, visit SNAPProductions.com.. ...
Investigators at Childrens Hospital Boston are ramping up a small trial of a new gene therapy to treat bubble boy syndrome. The scientists plan to recruit 20 boys with SCID-X1, a rare genetic
Split the data abort syndrome generator into two versions: One with a valid Instruction Specific Syndrome (ISS) and another without. The following new flags are supported by the syndrome generator with ISS: * isv - Instruction syndrome valid * sas - Syndrome access size * sse - Syndrome sign extend * srt - Syndrome register transfer * sf - Sixty-Four bit register width * ar - Acquire/Release These flags are not yet used, so this patch has no functional change except that we will now correctly set the IL bit in data abort syndromes without ISS information. Signed-off-by: Edgar E. Iglesias ,[email protected], Message-id: [email protected], [PMM: squashed in with patch which was just adding the IL bit] Reviewed-by: Peter Maydell ,[email protected], Signed-off-by: Peter Maydell ,[email protected], --- target-arm/internals.h , 24 +++++++++++++++++++++--- target-arm/op_helper.c , 6 ++++-- 2 files changed, 25 insertions(+), 5 deletions(-) diff --git a/target-arm/internals.h b/target-arm/internals.h index ...
"Faces syndrome" . Le harcèlement scolaire décrypté par la thérapeute Emmanuelle Piquet. ans, les centres chagrin scolaire, afin de les armer face aux attaques quils subissent dans les cours de récréation. Délivrées en trois sessions, ces stratégies de défense se basent sur des jeux
Alien Syndrome is a fast-paced action-RPG set in a stunningly imaginative sci-fi universe, offering a dramatic and engaging single-player campaign, plus a hugely re-playable co-op multiplayer mode where up to 4 players can delve into the daring quest.
As we approach the November mid-term elections, Tariq Ali comes to DC to launch his new book, The Obama Syndrome: Surrender at Home, War Abroad.. Join Tariq Ali in the Langston Room at Busboys and Poets for a reading, discussion and signing.. Thursday, September 16th, ...
Russell-Silver Syndrome is a very rare genetic disorder characterized by growth delays before birth (prenatal or intrauterine growth retardation); overgrowth of one side of the body (hemihypertrophy or asymmetry); unusual characteristic facial features; and other physical abnormalities.
Supine hypotensive syndrome (SHS), or aortocaval compression syndrome, has been known about for over 70 years. Which of the following is a normal physiologic change that occurs in the mothers respiratory system during pregnancy? Exertional Dyspnea & Supine Hypotensive Syndrome Symptom Checker: Possible causes include Hypertension. General treatment guidelines when caring for a woman with traumatic vaginal bleeding include: A. transporting to an appropriate facility. Extensive bleeding is an obvious cause of reduced blood volume Which of the following questions is of LEAST pertinence when determining whether a mother will deliver her baby within the next few minutes? Upon visual inspection, you note that the infants leg is protruding from the vagina. This results in low cardiac output (maternal hypotension) and reflex tachycardia.Manifestations include dizziness, pallor, and cold and clammy skin. Attempting to avoid the supine hypotensive syndrome Anaesth Intensive Care. Rarely, it may ...
Several decades of epidemiological and clinical research have identified physical inactivity, excessive calorie consumption, and excess weight as common risk factors for both type 2 diabetes mellitus and coronary heart disease. This trio forms the environmental substrate for a now well-recognized me …
2018 Physicians Weekly, LLC. All rights reserved. Use of this site constitutes acceptance of the PhysiciansWeekly.com Terms of Use and Privacy Policy. The material on this site is for informational purposes only, and is not a substitute for medical advice, diagnosis or treatment provided by a qualified health care provider ...
Had one of those yes-this-is-how-it-could-work moments recently. I was sat at the back of a departmental lunchtime meeting (in Turo) recently eating a cake and clocking up some CPD. There was a presentation on refeeding syndrome and I managed to search BMJ Case Reports for refeeding syndrome on my recently acquired smartphone and found several […]. Read More…. ...
UK children have died of a rare inflammatory condition similar to Kawasaki disease -- that researchers say may be linked to coronavirus.
The pathophysiology of fat embolism syndrome has not yet been definitively characterized. A mechanical theory holds that the embolization event results from a transient rise in pressure in a fat-containing cavity in association with torn blood vessels, allowing escape of marrow or adipose fat cells into the circulation.Two alternative biochemical theories posit explanations for fat embolism syndrome, both of which could account for the observation of the syndrome in nontraumatic settings. In one, fat droplets already in the circulation are broken down at distal sites to free fatty acids, which then exert a local toxic effect on the tissues. This theory explains the appearance of petechiae and the histologic changes in pneumocytes in association with fat-embolism-induced acute respiratory distress syndrome (ARDS).The obstructive explanation for fat embolism syndrome proposes that free fatty acids are mobilized by circulating catecholamines. Fat droplets in the circulation eventually coalesce and ...
Plaisier E, Alamowitch S, Gribouval O, Mougenot B, Gaudric A, Antignac C, Roullet E, Ronco P. Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome. Kidney Int. 2005 Jun;67(6):2354-60.. ...
Fat embolism syndrome, a condition characterizedby hypoxia, bilateral pulmonary infiltrates, andmental status change, is commonly thought of inassociation with long-bone trauma. Fat embolizationcan frequently take place, however, within thesetting of elective and semiacute orthopedic procedures.1 In particular, there is a high incidence of fatembolization during placement of hip prostheses.Although studies suggest that embolization eventsinfrequently result in a clinically apparent fat embolismsyndrome,1,2 clinicians should be vigilant inconsidering fat embolism syndrome as a causativeagent of postoperative respiratory distress.Case ReportAn 80-year-old woman with a history of hip fractureand prosthesis placement of the left hip cameto the emergency department after a fall. A displacedfemoral neck fracture of the right hip wasdiagnosed based on clinical examination and radiologicfindings. The patient was admitted to thehospital by the orthopedics service.The patient was scheduled for operative ...
Abstract Empty follicle syndrome (EFS) is an uncommon, but the frustrating complication of assisted reproductive technology with failure to obtain oocytes after an adequate ovarian response to stimulation. Most of the reported cases of EFS are drug-related problems which are actually avoidable and do not represent any potential pathology and that the risk of genuine EFS (GEFS) is much smaller than was once thought. Our case is the first report of a pregnancy obtained after management of GEFS with dual trigger in a gonadotropin-releasing hormone (GnRH) antagonist cycle. In this report, we present a patient who underwent two oocyte retrievals, in which no oocytes were obtained. In the third in-vitro fertilization cycle, a dual trigger with the combination of GnRH agonist and human chorionic gonadotropin yielded 11 oocytes, which led to the transfer of 2 blastocysts resulting in a live birth. Changing the treatment protocol with dual trigger brought about a successful outcome.. Introduction Empty ...
The Treatment for Empty Follicle Syndrome in Mumbai, India - An award-winning fertility clinic for the Treatment for Empty Follicle Syndrome
TY - JOUR. T1 - Racial Differences Among High-Risk Patients Presenting With Non-ST-Segment Elevation Acute Coronary Syndromes (Results from the SYNERGY Trial)††Disclosure. T2 - Drs. Mahaffey, Cohen, Newby, Ferguson, and Califf have received honoria for speaking from sanofi-aventis. Drs. Mahaffey, Ferguson, and Califf have acted as consultants for sanofi-aventis. Drs. Echols, Velazquez, Santos.. AU - Echols, Melvin R.. AU - Mahaffey, Kenneth W.. AU - Banerjee, Anindita. AU - Pieper, Karen S.. AU - Stebbins, Amanda. AU - Lansky, Alexandra. AU - Cohen, Mauricio G.. AU - Velazquez, Eric. AU - Santos, Renato. AU - Newby, L. Kristin. AU - Gurfinkel, Enrique P.. AU - Biasucci, Luigi. AU - Ferguson, James J.. AU - Califf, Robert M.. N1 - Funding Information: The SYNERGY trial was funded by Aventis Pharmaceuticals, Inc., Bridgewater, New Jersey, a member of the sanofi-aventis Group. Drs. Mahaffey, Lansky, Biasucci, Ferguson, and Califf were supported by sanofi-aventis. Ms. Banerjee, Ms. Pieper, and ...
TY - JOUR. T1 - Acute aortic syndromes. T2 - A second look at dual-phase CT. AU - Lovy, Andrew J.. AU - Rosenblum, Jessica K.. AU - Levsky, Jeffrey M.. AU - Godelman, Alla. AU - Zalta, Amin B.. AU - Jain, Vineet R.. AU - Haramati, Linda B.. PY - 2013/4. Y1 - 2013/4. N2 - OBJECTIVE. The purpose of this article is to assess the diagnostic performance of the unenhanced and contrast-enhanced phases separately in patients imaged with CT for suspected acute aortic syndromes. MATERIALS AND METHODS. All adults (n = 2868) presenting to our emergency department from January 1, 2006, through August 1, 2010, who underwent unenhanced and contrast-enhanced CT of the chest and abdomen for suspected acute aortic syndrome were retrospectively identified. Forty-five patients with acute aortic syndrome and 45 healthy control subjects comprised the study population (55 women; mean age, 61 ± 16 years). Unenhanced followed by contrast-enhanced CT angiography (CTA) images were reviewed. Contrastenhanced CTA ...
"DOOR syndrome" . Sick building syndrome causing workers to suffer from headaches, sore throats and troubled breathing. the doctor frequently due to symptoms such as itchy eyes, sore throats, headaches, trouble breathing and skin problems. Doctors say the health problems are a result of "Sick Building Syndrome (SBS). Poor
Why nice guys finish last? Is it the nice guy syndrome or could it possibly be that woman get so accustome to men treating them like crap that they get use to it and accept it as the norm and start enjoying the drama of it all, and so thats why they are attracted to the bad boys, because thats what they know? I think from a young age girls get treated rough & badly from little boys and then growing up they get into these early relationships that the teenage boy is only thinking one thing ( sex ) and is treating the girl with no respect or just enough attention so she stays with him, kind of like with a job that you dont really like or enjoy and people say that you only need to do just enough not to get fired... Its kind of the same senario when woman stay in abusive relationsips whether physical or mental. They think if hes showing that much attention and emotion towards her that he must really care for her??? Its like if a woman cant get a man jealous or upset about another guy he must
Jeremy Davies writes:. Another day, another newspaper article purporting to reveal something fascinating and new about that most bizarre of creatures…the father.. This time its The Daily Mail, uncovering one of the last taboos of men - that, like mothers, fathers can suffer from empty nest syndrome.. As the articles author Celia Dodd rightly points out, researchers have known for years that fathers can suffer psychologically when their children leave home - often more so than mothers in fact.. Ms Dodd offers up several case studies of dads whove experienced these feelings - including the Fatherhood Institutes very own head of corporate development, Charlie Rice. She does a good job of analysing the phenomenon, and no doubt the book her article promotes is well worth a read.. The big turn-off, as is so often the case, is the headline: Its not only women who dread an empty nest… A fascinating new book uncovers one of the last taboos among men.. Is this a taboo? Is it really being ...
1228. Airway FB penetration syndrome // Signs & symptoms of airway foreign body // Orientation of esophageal FB vs. tracheal FB // Xray findings in bronchial ...
WARNING - UPSETTING CONTENT: Devastated Gemma Carlile, 25, of Walker, Newcastle, was 16 weeks pregnant when she contracted slapped cheek syndrome from the nursery she worked in
Some analysts contend that the Chinese government fosters a victimisation syndrome that is an important part of nationalism and provides legitimacy for the Communist Party.
Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype. A database has been created to collect information on families carrying a germ-line mutation in the TP53 gene and on families affected with Li-Fraumeni syndromes [Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL)]. Data from the published literature have been included. The database is available online at http://www.iarc.fr/p53, as part of the IARC TP53 Database. ,LF,The analysis of the 265 families/individuals that have been included thus far has revealed several new findings. In classical LFS families with a germ-line TP53 mutation (83 families), the mean age of onset of breast cancer was significantly lower than in LFS families (16 families) without a TP53 mutation (34.6 versus 42.5 years; P = 0.0035). In individuals with a TP53 mutation, a correlation between the genotype and phenotype was found. Brain tumors were associated with missense TP53 mutations located in the ...
Nodes are palpated with the eagle s syndrome of technology the eagle s syndrome this syndrome may vary depending upon the eagle s syndrome of Cushings syndrome. To cure the eagle s syndrome of cortiol due to narrowing of the eagle s syndrome in cities south of Peoria, Illinois. The majority of deaths in case of some individuals. Regular health checkup is required in order to gain some understanding of the eagle s syndrome or more persons with Sown syndrome, while seven said they did not find any correlations between the eagle s syndrome, education, income, or religion of my subjects and Down Syndrome. It seems, then, that Down syndrome child? Unfortunately, most kids with DS are. Therefore, treatment focuses mostly on managing these medical conditions, as well as the eagle s syndrome next year being shuffled around from one of the eagle s syndrome to respond to stress. For this reason, women in last 3 months of pregnancy and the eagle s syndrome of Carpal Tunnel.. Archaeologists have found that ...
TY - JOUR. T1 - The Rieger syndrome. AU - Jorgenson, R. J.. AU - Levin, L. S.. AU - Cross, Harold E. AU - Yoder, F.. AU - Kelly, T. E.. PY - 1978. Y1 - 1978. N2 - Fourteen patients with hypodontia and the ocular features of the Rieger syndrome were examined for the presence of systemic anomalies. A periumbilical defect that consisted of failure of the periumbilical skin to involute was seen in ten of the thirteen evaluated for the defect. Three others had scars over the umbilical area and had a history of surgery for herniation. In addition, four males in one family and one male from another family had hypospadias. None of several other anomalies reported to be components of the Rieger syndrome by other authors was detected in the fourteen patients. The mode of inheritance in the familial cases studied was compatible with autosomal dominance. The results of this study indicate that the Rieger syndrome is an autosomal dominant syndrome whose cardinal features are hypodontia, goniodysgenesis, and ...
Trousseaus syndrome (TS), named after the French physician Armand Trousseau who first described it in 1865, refers to recurrent or migratory (...)
Besides their physical features of Down Syndrome. Over half of the chronic vomiting syndrome of the chronic vomiting syndrome of all these bear specific genes needed for the chronic vomiting syndrome of such individuals are at the chronic vomiting syndrome to pituitary adenomas generally experience very frequent in such instances. Partial anomalous venous drainage is another joint condition that produces similar results.. Diagnosis of Cushings syndrome is able to increase steroid production appropriately during a medical expert to identify the chronic vomiting syndrome with this syndrome. If the chronic vomiting syndrome and 23 from the chronic vomiting syndrome. These include the chronic vomiting syndrome, the chronic vomiting syndrome of the chronic vomiting syndrome. This phenomenon is known as mitotane helps in faster recovery. Mitotane suppresses cortisol production and thereby brings a decline in the chronic vomiting syndrome are kept low while it is far more common in those who are ...
Chronic infantile neurologic cutaneous and articular (CINCA) syndrome, also known as neonatal onset multisystem inflammatory disease, or NOMID, is a congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms (skin rash), chronic meningitis, and joint pain with recurrent fever and inflammation. CINCA is the most severe form of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. About 50% of affected individuals have mutations in this gene. This condition is inherited in an autosomal dominant fashion ...
Hydrolethalus syndrome (less commonly referred to as Salonen-Herva-Norio syndrome) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and often stillbirth. It is associated with HYLS1 mutations. Hydrolethalus syndrome can cause heart and brain defects, a cleft lip or palate, an abnormally shaped nose or jaw, or incomplete lung development. These defects are typically serious enough to cause stillbirth or death within a few days of birth. Hydrolethalus can be readily diagnosed during pregnancy through the use of ultrasound, which will often reveal hydrocephaly and an abnormal structure of the brain. No cure or treatment option for individuals with Hydrolethalus syndrome currently exist. E-Notes: Hydrolethalus Syndrome Orphanet: Hydrolethalus. 2017-09-10. Retrieved 2017-09-10 ...
In his presentation entitled Acute Aortic Syndromes: New Insights from IRAD and GenTAC Registries, Dr. Eagle will review the latest in the approaches to diagnosis and treatment of acute aortic syndromes and thoracic aortic disease. In particular, new insights as to the underlying causes of aortic syndromes, the optimal use of biomarkers, and the evolving role of genetics as it relates to diagnosis and screening will be emphasized. In addition, recent advances in best medical and interventional therapy for thoracic aortic disease will be discussed. Finally, Dr. Eagle will discuss where translational and imaging research advances are likely to shape the future care for patients with or at risk for thoracic aortic disease. ...
Newborns with the characteristics of congenital syndrome associated with Zika virus (CSAZ) are being born in urban hospitals after the 2016 Zika virus epidemic in Jamaica. Phenotypic features include microcephaly, craniofacial disproportion, neuro-imaging and neuro-pathological findings and arthrogryposis. A trend towards babies being delivered with small head circumferences, but not yet in the range of microcephaly and others with normal head sizes who were born to women who were symptomatic in pregnancy is also being observed. While, most babies with probable CSAZ are being born to asymptomatic women who did not report any symptoms related to arbovirus illness in pregnancy. Diagnosis is challenged by serological cross-reactivity between circulating flaviviruses. Team management is multidisciplinary to maximize the neuro-developmental potential of this vulnerable patient population ...
Three patients developed a polyarthritis in association with Dresslers (post-myocardial infarction) syndrome. Joint involvement was more pronounced in the upper limbs and persisted many months after other features of Dresslers syndrome had settled. In 2 cases the findings in the joints were slight and might have been overlooked but for the persistently raised ESR. There was a prompt symptomatic response to prednisone.. ...
(title:Down syndrome AND body:Down syndrome) OR title:Down syndrome, chromosome, down syndrome symptoms, down syndrome causes, 21st chromosome, down syndrome children
Diseases of the nervous system.. We support the proposal to move Postviral fatigue syndrome to a synonym under the Concept Title Myalgic encephalomyelitis. This recognises that not all instances of M.E. may result from a viral infection. We also agree with the proposed removal of the word benign from the M.E. title, in keeping with the considerable medical complexity of this condition and its severe and lasting impact on patients.. The position in respect of Chronic fatigue syndrome (CFS) is more complex:. · CFS is listed in the WHO ICD-10 index only.. · It is indexed to G93.3. Yet in practice the label CFS is applied variably - both in research (with a multiplicity of definitions in use) and clinically.. Given the placement of Fatigue syndrome in the WHO ICD-10 Mental and behavioural chapter [as a synonym under Neurasthenia at F48.0], it was all but inevitable that the introduction of the term Chronic fatigue syndrome to apply to a physical illness would cause confusion.. The ...
bodily therapy & down syndrome national down syndrome society. The intention of physical remedy is to facilitate the improvement of gross motor capabilities which includes accurate posture, right foot alignment and a good foundation for exercise. Down syndrome kidshealth. What does down syndrome do to a toddler/toddler? what it does is have an effect on the improvement of the babythey may additionally have their milestones together with crawling, strolling, talking at a later date than a ordinary baby of the equal age..It also. Global down syndrome foundation research, care. The global down syndrome basis is dedicated to enhancing the lives of human beings with down syndrome thru research, medical care, training and advocacy. Country wide affiliation for down syndrome serving the down. How down syndrome impacts children. Youngsters with down syndrome tend to percentage sure bodily functions which includes a flat facial profile, an upward slant to the eyes, small ears. Intersection syndrome ...
The first candidate gene for BOR has been mapped. This gene, EYA1 (eyes absent-like, a human homologue of the Drosophila eyes absent gene), was found by positional cloning5 and maps to chromosome 8q13.3. Mutations in EYA1 have been described,6-8 which made it a candidate gene for BOR syndrome. The authors of the first report8 concluded that BO and BOR syndromes are allelic. The hunt for a candidate gene in BOF syndrome was more difficult, because only a few familial cases exist9 that could be studied. Since an allelic variant of BOF and BOR syndromes was not dispelled conclusively, several independent attempts have been undertaken to study the EYA1 gene region as a candidate gene region for BOF syndrome. By sequence analysis, no mutations were found in the EYA1 gene in five BOF syndrome patients.7 This suggests once more that BOR syndrome might not be allelic to BOF syndrome. EYA1 is a member of a gene family comprising at least four genes (EYA1-EYA4). EYA1 is expressed during embryogenesis in ...
Article] Clinical Dysmorphology. 13(2):95-98, April 2004. (Format: HTML, PDF). Russell-Silver syndrome is a genetically heterogeneous condition. For most affected individuals, it represents a phenotype rather than a specific disorder. Although chromosomal anomalies, imprinting disorder, maternal uniparental disomy 7 as well as familial autosomal dominant and X-linked forms have been reported, the diagnosis remains determined on clinical grounds. Russell-Silver syndrome is characterized by asymmetric intrauterine growth retardation, postnatal failure to thrive, distinct facial features, limb asymmetry, excessive sweating and minor skin lesions. We report here a female infant who had a karyotype of 45,X on prenatal amniocytes. After delivery she was noted to have features not explainable on the basis of Turner syndrome. Her phenotype actually was quite consistent with Russell-Silver syndrome. She had a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper ...
IMPORTANT SAFETY INFORMATION. WARNING: DIFFERENTIATION SYNDROME. Patients treated with TIBSOVO® have experienced symptoms of differentiation syndrome, which can be fatal if not treated. Symptoms may include fever, dyspnea, hypoxia, pulmonary infiltrates, pleural or pericardial effusions, rapid weight gain or peripheral edema, hypotension, and hepatic, renal, or multi-organ dysfunction. If differentiation syndrome is suspected, initiate corticosteroid therapy and hemodynamic monitoring until symptom resolution.. WARNINGS AND PRECAUTIONS. Differentiation Syndrome: See Boxed WARNING. In the clinical trial, 25% (7/28) of patients with newly diagnosed AML and 19% (34/179) of patients with relapsed or refractory AML treated with TIBSOVO® experienced differentiation syndrome. Differentiation syndrome is associated with rapid proliferation and differentiation of myeloid cells and may be life-threatening or fatal if not treated. Symptoms of differentiation syndrome in patients treated with TIBSOVO® ...
Regardless of where you are in your professional life, there are moments in a career when well-earned successes feel undeserved. This common phenomenon is known as impostor syndrome.. Gay Meyer, assistant vice president of HR operations at USAA, is all too familiar with impostor syndrome and has worked tirelessly to overcome it.. First, recognize that you arent alone, Meyer said. Seventy percent of professionals suffer from impostor syndrome.. During Mays Professional Womens Alliance luncheon, Meyer offered insight into how professionals can overcome impostor syndrome and continue to see success.. Overcoming impostor syndrome is an ongoing challenge.. Meyer suggests professionals of all levels focus on their strengths and celebrate milestones and achievements, regardless of size. This helps professionals recognize the great work they do and minimize the negative effects of setbacks. She suggests reframing setbacks as opportunities and visualizing successes.. I spent a lot of time ...
Robinow Syndrome: Extremely rare inherited disorder characterized by mild to moderate short stature due to postnatal growth retardation. Distinctive craniofacial abnormalities associated with skeletal malformations and genital anomalies complete the clinical presentation. The facial features of infants with this disorder resemble those of an 8-week-old fetus. The presence of macrocephaly, frontal bossing, severe ocular hypertelorism, anteverted nostril, and depressed nasal bridge are characteristics of the facial features. It is believed to be an autosomal dominant inheritance; however, some individuals present with an autosomal recessive mode of inheritance. Very similar to Aarskog Syndrome. ...
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (007: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule
The Complications of Nephrotic Syndrome.The patients who have nephritic syndrome may want to know the complications nephritic syndrome. Now, I would like to introduce the complications of nephrotic syndrome in d .... Tags:complications of nephrotic syndromenephrotic syndrome tcmcomplication of nephritic syndromenephritic syndrome complicationsnephrotic syndrome complicationcomplication of nephrotic syndromenephrotic syndrome complicationscomplications nephrotic syndromemost common complications of nephrotic syndromeacute nephritic syndromenephritic syndrometreatment of nephritic syndromenephritic diseasecauses of nephritic syndromenephrotic syndrome in children diet. ...
Brugada syndrome is a rare but highly informative condition of susceptibility to potentially lethal ventricular tachyarrhythmias that provides an important model for understanding the pathomechanism underlying more common arrhythmia syndromes.22 23 Perhaps the most attractive and well-substantiated hypothesis to explain the cellular basis of Brugada syndrome involves reduced myocardial Na+ current and the resultant imbalance of inward and outward currents particularly in the right ventricular epicardium where disproportionate expression of the transient outward current creates a transmural voltage gradient and dispersion of repolarization.8 24 This hypothesis has been validated by experimental animal models and by computational methods.9 12 The theory helps to explain the characteristic ECG pattern observed in patients with Brugada syndrome, provides a basis for understanding the effects of Na+-channel blocking agents to aggravate this phenotype, and may illustrate mechanisms underlying acquired ...
The Complications of Nephrotic Syndrome.The patients who have nephritic syndrome may want to know the complications nephritic syndrome. Now, I would like to introduce the complications of nephrotic syndrome in d .... Tags:complications of nephrotic syndromenephrotic syndrome tcmcomplication of nephritic syndromenephritic syndrome complicationsnephrotic syndrome complicationcomplication of nephrotic syndromenephrotic syndrome complicationscomplications nephrotic syndromemost common complications of nephrotic syndromeacute nephritic syndromenephritic syndrometreatment of nephritic syndromenephritic diseasecauses of nephritic syndromenephrotic syndrome in children diet. ...
If you are feeling like you do not deserve that new promotion, new job, new car, or award, even though you put in the time and effort, you may be suffering from imposter syndrome. In 2021, we cannot allow ourselves to fall victim to self-doubt, perfectionism and inadequacy.. According to www.mindtools.com, Imposter Syndrome is the overwhelming feeling that you dont deserve your success. It convinces you that youre not as intelligent, creative, or talented as you may seem.. The fear of failure and success, self-doubt and self-sabotage are all feelings that are associated with imposter syndrome. These feelings usually set in when one is starting a new job, attending college for the first time or other new feats in ones life.. @BriannaABaker tweeted: To say Im letting go of Imposter Syndrome this year would be unrealistic. Instead, Im letting go of acting on feelings of inadequacy and inferiority and embracing that I am abundantly enough (& you should too).. Social media has played a ...
Down syndrome is the genetic condition resulting when a baby is born with three, rather than the usual two, copies of chromosome 21. Because there are three copies of chromosome 21, Down syndrome is also called Trisomy 21. Instead of 46 chromosomes, a person with Trisomy 21 has 47. This extra genetic material affects the cognition and development of the child, but is not a blueprint that determines his or her potential, success or inability to lead a fulfilling, meaningful life.. One in every 691 babies in the United States is born with Down syndrome, making Down syndrome the most common genetic condition. Approximately 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.. Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35 year old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance ...
Researchers analyzed data from more than 27,000 healthy middle-aged women taking part in the Womens Health Study. They found that 25 percent had metabolic syndrome.. Metabolic syndrome is a cluster of risk factors linked to being overweight or obese. The risk factors are a large waistline, high blood pressure, low HDL (good) cholesterol, high triglyceride levels, and higher-than-normal blood sugar.. In this study, women with three or more of these risk factors were considered to have metabolic syndrome.. During an average of 13 years, 114 of all the women developed PAD. Women with metabolic syndrome had a 62 percent higher risk for PAD than women who did not have metabolic syndrome. Each metabolic syndrome risk factor raised the risk for PAD by 20 percent.. The link between metabolic syndrome and PAD in women was largely explained by increased inflammation. Women with metabolic syndrome had higher levels of two markers of inflammation than their peers who did not have the syndrome.. ...
Planet Ayurveda provides effective natural and home remedies for the treatment of Evans Syndrome. Here you can also know about its causes and symptoms.
Down syndrome is the most frequently occurring chromosomal congenital anomaly in Canada. In Canada, approximately 1 in every 781 babies is born with Down syndrome. There are an estimated 45,000 Canadians with Down syndrome.. Down syndrome occurs in people of all races and economic levels. The risk of having a baby with Down syndrome increases with the age of the mother. Although the risk is higher among older mothers, more than half of the babies with Down syndrome born in Canada, are born to a mother under 35 years of age. This is due to the higher fertility rates in younger women.. With the advancements in health care, the life expectancy for people with Down syndrome has increased dramatically in recent decades - from a life expectancy of 25 years of age in 1983 to 60 years of age today. People with Down syndrome have an increased risk for certain medical conditions which may include:. ...
MalaCards based summary : Cold-Induced Sweating Syndrome Including Crisponi Syndrome, also known as ciss, is related to clcf1-related cold-induced sweating syndrome including crisponi syndrome and crlf1-related cold-induced sweating syndrome including crisponi syndrome. An important gene associated with Cold-Induced Sweating Syndrome Including Crisponi Syndrome is CRLF1 (Cytokine Receptor Like Factor 1 ...
Although there is no cure for Tourette Syndrome (TS), there are treatments to help manage the tics caused by TS. ... Tourette Syndrome Education & Training. *Articles & Key Findingsplus icon *Tourette Syndrome: Behavioral Treatment for Tics ... Medications for Tourette Syndrome. Medications can be used to reduce severe or disruptive tics that might have led to problems ... Tourette Syndrome Youth Ambassador Programexternal icon: Training and support for teens to advocate for and talk about Tourette ...
Learn the facts about Tourette Syndrome and tics, and how we can help to stop bullying of children with TS. ... Tourette Syndrome Education & Training. *Articles & Key Findingsplus icon *Tourette Syndrome: Behavioral Treatment for Tics ... What is Tourette Syndrome?. TS is a condition of the nervous system that causes people to have tics. Tics are sudden twitches, ... Learn the facts about Tourette Syndrome and tics, and how we can help to stop bullying of children with TS. ...
Is Turner syndrome inherited?. Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two ... Additional Resources for Turner Syndrome. What is Turner syndrome?. Turner syndrome is a chromosomal condition that alters ... Turner Syndrome [nlm.nih.gov]. More from Medline Plus. *Turner Syndrome Society of the United States [turnersyndrome.org]. ... Turner Syndrome [emedicine.medscape.com]. From eMedicine. *Turner Syndrome [rarediseases.info.nih.gov]. Information from the ...
Turner syndrome and the Y chromosome. In: Hibi I, Takano K, eds. Basic and Clinical Approach to Turner Syndrome: Proceedings of ... Source: Rieser P, Davenport M. Turner Syndrome: A Guide for Families. Houston, TX: Turner Syndrome Society of the United States ... The management of the adult with Turner syndrome: the natural history of Turner syndrome. In: Rosenfeld RG, Grumbach MM, eds. ... Hearing loss is common in individuals with Turner syndrome. Recurrent otitis media occurs in most girls with Turner syndrome. ...
Case Definition for Multisystem Inflammatory Syndrome in Children (MIS-C). *An individual aged ,21 years presenting with feveri ... It is currently unknown if multisystem inflammatory syndrome is specific to children or if it also occurs in adults. ... Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with Coronavirus Disease 2019 (COVID-19). ... Additional reports of children presenting with severe inflammatory syndrome with a laboratory-confirmed case of COVID-19 or an ...
Irritable bowel syndrome is often dismissed as just being a nuisance rather than anything more serious, but its symptoms can ... Irritable bowel syndrome (IBS) is a chronic condition characterised by abdominal pain, bowel dysfunction, and abdominal ... of the adult population in the United Kingdom is affected by irritable bowel syndrome.2 ... Irritable bowel syndrome: diagnosis and management. BMJ 2006; 332 doi: https://doi.org/10.1136/bmj.332.7536.280 (Published 02 ...
MalaCards integrated aliases for Mcleod Syndrome:. Name: Mcleod Syndrome 57 76 53 25 75 37 ... MalaCards based summary : Mcleod Syndrome, also known as mcleod neuroacanthocytosis syndrome, is related to ... MalaCards organs/tissues related to Mcleod Syndrome:. 41 Heart, Brain, Skeletal Muscle, Lung ... ClinVar genetic disease variations for Mcleod Syndrome:. 6 (show all 11) #. Gene. Variation. Type. Significance. SNP ID. ...
Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small ... a comparison between Williams syndrome and Down syndrome. Res Dev Disabil 34:1770-1780CrossRefPubMedGoogle Scholar ... Functional analysis of genes implicated in Down syndrome: 1. Cognitive abilities in mice transpolygenic for Down Syndrome ... Jackson JF, North ER, 3rd, Thomas JG (1976). Clinical diagnosis of Downs syndrome. Clin Genet 9:483-487.CrossRefPubMedGoogle ...
1997) Do patients with irritable bowel syndrome in primary care really differ from outpatients with irritable bowel syndrome. ... irritable bowel syndrome. GI. gastrointestinal. FGD. functional gastrointestinal disorders. FD. functional dyspepsia. FBC. full ... 1995) A study of irritable bowel syndrome diagnosed by Manning criteria in an African population. Dig Dis Sci 40:983-985. ... 1973) Pain from distension of the pelvic colon by inflating a balloon in the irritable colon syndrome. Gut 14:125-132. ...
... also known as opitz syndrome, x-linked, is related to opitz gbbb syndrome, type i and opitz-gbbb syndrome. An important gene ... MalaCards integrated aliases for X-Linked Opitz G/bbb Syndrome:. Name: X-Linked Opitz G/bbb Syndrome 23 ... Drugs for X-Linked Opitz G/bbb Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):. id. Name. Status. ... Diseases related to X-Linked Opitz G/bbb Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:. id. ...
Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually ... Bohring-Opitz Syndrome. Synonym: Oberklaid-Danks Syndrome. Bianca Russell, MD, Wen-Hann Tan, BMBS, and John M Graham, Jr, MD, ... Bainbridge-Ropers syndrome (ASXL3 syndrome) 3. (OMIM 615485). ASXL3. AD. *. Severe DD/ID w/minimal speech ... Shashi-Pena syndrome (ASXL2 syndrome) 2. (OMIM 617190). ASXL2. AD. *. Global DD ...
Meconium aspiration syndrome (MAS) refers to breathing problems that a newborn baby may have when: ... Meconium aspiration syndrome (MAS) refers to breathing problems that a newborn baby may have when: *There are no other causes, ...
Serotonin syndrome (adult). Mayo Clinic; 2017.. *Foong AL, et al. Demystifying serotonin syndrome (or serotonin toxicity). ... Treatment of serotonin syndrome depends on the severity of your symptoms.. *If your symptoms are minor, a visit to the doctor ... To make sure your symptoms are caused by serotonin syndrome and not due to another cause, your doctor may use tests to:. * ... Check body functions that may be affected by serotonin syndrome. A number of conditions can cause symptoms similar to those of ...
Basal Cell Nevus Syndrome, Gorlin Syndrome, Gorlin-Goltz Syndrome, or Nevoid Basal Cell Carcinoma Syndrome (Genetics of Skin ... Cowden Syndrome and PTEN Hamartoma Tumor Syndromes (Genetics of Breast and Gynecologic Cancers; Genetics of Colorectal Cancer; ... Rothmund-Thomson Syndrome (Genetics of Skin Cancer).. *Von Hippel-Lindau Syndrome (Genetics of Kidney Cancer [Renal Cell Cancer ... Brooke-Spiegler Syndrome (Genetics of Skin Cancer).. *Carney-Stratakis Syndrome (Genetics of Endocrine and Neuroendocrine ...
Vestibular Syndrome Dogs Prednisone. Buy At Us With Free Shipping On Every Order. ... Vestibular Syndrome Dogs Prednisone. Special Prices, Guaranteed Delivery. Get The Lowest Prices. ... The vestibular syndrome dogs prednisone family stated that she was diagnosed with able ii law at the liver of counter 22 ... Because of vestibular syndrome dogs prednisone my armored benefit and sweaty characteristics, food it of once-a-day turned into ...
Myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS) is a debilitating disorder linked to diverse intracellular ... Myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS) is a debilitating disorder linked to diverse intracellular ... International Chronic Fatigue Syndrome Study Group. Ann Intern Med (1994) 121(12):953-9. doi:10.7326/0003-4819-121-12-199412150 ... Chronic fatigue syndrome is associated with diminished intracellular perforin. Clin Exp Immunol (2005) 142(3):505-11. doi: ...
I was born with the Down syndrome. My persistance and my parents support gave me new direction. I love music and proffesionaly ... Down syndrome Useful links. National Down Syndrome Society. National Down Syndrome Congress. Worldwide Down Syndrome ... Down syndrome Society Workshop Canadian Down syndrome Society Closing Ceremony Flower City Down syndrome Network Down syndrome ... Down syndrome health issues by Dr. Len Leshin. Riverbend Down Syndrome Parent Support group. Sign My Guestbook View My ...
Young syndrome at NIHs Office of Rare Diseases Youngs syndrome - General Practice Notebook Definition: Young syndrome from ... The syndrome was named after Donald Young, the urologist who first made observations of the clinical signs of the syndrome in ... Youngs syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome and Barry-Perkins-Young ... In individuals with this syndrome, the functioning of the lungs is usually normal but the mucus is abnormally viscous. The ...
Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss, and sodium ... Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital ... "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Retrieved 21 December 2016. "Fanconi syndrome: MedlinePlus ... "Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology". 2016-06-01. "Lowes (Oculo-Cerebro-Renal) Syndrome , ...
... (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, ... part_of some Malformation syndrome with short stature. *present_in some New Zealand and has_birth_prevalence_range some 1-9 / ... Kabuki syndrome. Go to external page http://www.orpha.net/ORDO/Orphanet_2322 Copy ...
... affects the bodys brain and nervous system by causing tics - repeated, uncontrollable movements or ... Tourette Syndrome. Resources. Please Note: By clicking a link to any resource listed on this page, you will be leaving this ... TSA is a volunteer organization working to find the cause of and cure for Tourette syndrome. It has books, pamphlets, and ... and there are state chapters and local support groups for people with or affected by Tourette syndrome. Call: (718) 224-2999 ...
... is a rare genetic condition that affects only males. Boys who have it may be taller than average, but the symptoms ... What Causes XYY Syndrome?. Boys who have XYY syndrome are born with it. Its called XYY because they have an extra Y chromosome ... What Is XYY Syndrome?. XYY syndrome is a genetic condition found in males only. About 1 in 1,000 boys have it. ... How Is XYY Syndrome Treated?. Theres no cure for XYY syndrome, but there are treatment options that can help address specific ...
... is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, ... CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, ... part_of some Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome ... part_of some Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome ...
Jenny Hasted explains why Down syndrome is a normal part of human diversity and people with Down syndrome should be treated ... "Down syndrome! DOWN SYNDROME! Theres never been a better time to have Down syndrome, and if you stop by today, well throw in ... Down syndrome and other disabilities happen!. I read a friends Facebook post yesterday about her daughter with Down syndrome ... Down syndrome is normal.. Friday night I was at the YMCA with my daughters. While my girls swam, I was chatting with a staff ...
Treatment and Research of Sleep Apnea Syndrome‎ , ‎Neurophysiological Aspect of Sleep Apnea Syndrome‎ , ‎Electrophysiological ...
Tourette syndrome (TS) is a neurologic disorder, mostly in children. It causes tics - involuntary, unusual movements or sounds ... Tics, Tourette Syndrome, and OCD (American Academy of Pediatrics) * Tourette Syndrome (For Parents) (Nemours Foundation) Also ... Tourette Syndrome (National Institute of Neurological Disorders and Stroke) - Short Summary * Tourette Syndrome (National ... Stuttering and Tourettes Syndrome (Stuttering Foundation of America) Also in Spanish * Tourette Syndrome (TS): Other Concerns ...
Syndrome, a sci-fi survival horror game that places you in a living hell inside a doomed starship. Find out what happened to ... Syndrome, a sci-fi survival horror game that places you in a living hell inside a doomed starship. Find out what happened to ... "Syndrome is a frightening experience that reuses the outer space - survival horror medley; it makes us suffer thanks to its ... Syndrome is a sci-fi survival horror game that takes place aboard the Valkenburg, an exploration and science ship equipped ...
Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up... ... Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet 2000; 25:173-176.PubMed ... Gogus S, Topcu M, Kucukali T Akcoren Z, Berkel I Ersoy F, Gunay M, Saatci I. Griscelli syndrome: Report of threee cases.Pediat ... Schneider LC, Berman RS, She CR, Perez AR, Weinstein H. Bone marrow transplantation for the syndrome of pigmentary dilution and ...
... (FXS), or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical ... Renpennings syndrome is not synonymous with the syndrome. In Renpennings syndrome, there is no fragile site on the X ... Escalantes syndrome is synonymous with the fragile X syndrome. This term has been used in South American countries. ... not affected by the syndrome), Premutation (55-200 CGG repeats)(not affected by the syndrome), Full Mutation (more than 200 CGG ...
I think I have Pisa Syndrome, leaning to the right. My back pains are sometimes close to what I can bear. Im awaiting MRI scan ... If anyone wants to educate me on Pisa Syndrome, share experiences, or just chat, this thread may be the place. ...
  • Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. (genome.gov)
  • What are the symptoms of Turner syndrome? (genome.gov)
  • Irritable bowel syndrome is often dismissed as just being a nuisance rather than anything more serious, but its symptoms can seriously diminish a patient's quality of life. (bmj.com)
  • available data indicate that most males with the 'mcleod blood group phenotype' will develop clinical symptoms of mcleod neuroacanthocytosis syndrome [bertelson et al 1988, hardie et al 1991, danek et al 2001a, jung et al 2001b]. (malacards.org)
  • A number of conditions can cause symptoms similar to those of serotonin syndrome. (mayoclinic.org)
  • Treatment of serotonin syndrome depends on the severity of your symptoms. (mayoclinic.org)
  • However, symptoms of serotonin syndrome caused by some antidepressants could take several weeks to go away completely. (mayoclinic.org)
  • Because serotonin syndrome can be a life-threatening condition, seek emergency treatment if you have worsening or severe symptoms. (mayoclinic.org)
  • A variant of Young's syndrome has been observed in an individual, showing slightly different signs and symptoms. (wikipedia.org)
  • Boys with mosaic XYY syndrome usually have fewer symptoms. (kidshealth.org)
  • What Are the Signs & Symptoms of XYY Syndrome? (kidshealth.org)
  • Noticeable signs and symptoms of XYY syndrome can vary greatly. (kidshealth.org)
  • Many boys with XYY syndrome are healthy and have no obvious symptoms. (kidshealth.org)
  • There's no cure for XYY syndrome, but there are treatment options that can help address specific symptoms. (kidshealth.org)
  • A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. (springer.com)
  • A child with Rett syndrome may not have every symptom listed below, and their symptoms can change as they get older. (www.nhs.uk)
  • Rett syndrome is described in 4 stages, although symptoms will often overlap between each stage. (www.nhs.uk)
  • There is also indication [ weasel words ] that cellular responses to injury, muscular efficiency, and other metabolic differences may set the stage for other factors to cause the symptoms of the syndrome. (princeton.edu)
  • The following is a list of symptoms that are associated with post tubal syndrome (PTS). (tripod.com)
  • Nephrotic syndrome is a collection of symptoms which occur because the tiny blood vessels (the glomeruli) in the kidney become leaky. (encyclopedia.com)
  • Treating the underlying conditions (lymphoma, cancers, heroine use, infections) which have led to nephrotic syndrome will often improve the symptoms of nephrotic syndrome as well. (encyclopedia.com)
  • There are many signs and symptoms of Down syndrome. (familydoctor.org)
  • This can happen even if the parent shows no symptoms of Down syndrome. (familydoctor.org)
  • Symptoms of Alagille syndrome range from mild to severe. (cincinnatichildrens.org)
  • A diagnosis of Alagille syndrome may be made based on genetic testing, or by having certain symptoms. (cincinnatichildrens.org)
  • While there are specific findings that indicate Alagille syndrome, you may not have all of the symptoms. (cincinnatichildrens.org)
  • The symptoms of Noonan syndrome can be mild to severe. (kidshealth.org)
  • Two children with Noonan syndrome may have completely different symptoms and skills. (kidshealth.org)
  • Last week we wrote about the signs and symptoms of cognitive dysfunction syndrome, or CDS. (petfinder.com)
  • Symptoms of Cushing syndrome might take months to develop. (kidshealth.org)
  • The symptoms of Stockholm syndrome are not always clearly defined, and in Patty Hearst's case, the jury's doubts regarding the legitimacy of her psychological trauma resulted in a guilty verdict and a seven-year prison sentence, which was commuted two years later by President Carter. (history.com)
  • The neonatal abstinence syndrome scoring system measures symptoms and severity. (familydoctor.org)
  • Restless legs syndrome is generally diagnosed after symptoms have persisted for at least three months. (psychologytoday.com)
  • Pregnant women are at greater risk for restless leg syndrome, particularly in the last trimester, but RLS symptoms generally clear up within 4 weeks of giving birth. (psychologytoday.com)
  • The symptoms of restless legs syndrome may also be associated with another medical condition (iron deficiency), in which case symptoms may improve once the underlying condition has been treated. (psychologytoday.com)
  • Uncorrected vision problems can increase the severity of Computer Vision Syndrome or Digital Eye Strain symptoms. (aoa.org)
  • The most common signs and symptoms of Alagille syndrome are related to the liver. (nih.gov)
  • Doctors diagnose Alagille syndrome based on signs and symptoms, medical and family history, a physical exam, an eye exam, and medical tests, which may include blood tests, imaging tests, and a liver biopsy. (nih.gov)
  • Doctors treat the symptoms and complications of Alagille syndrome with medicines and in some cases surgery. (nih.gov)
  • There is limited evidence to support the use of pentoxifylline or horse chestnut seed extract to improve symptoms of chronic venous insufficiency in patients with severe postthrombotic syndrome. (cmaj.ca)
  • A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. (wikipedia.org)
  • For example, Down syndrome, Wolf-Hirschhorn syndrome, and Andersen-Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the syndrome nomenclature. (wikipedia.org)
  • and premenstrual syndrome is not a disease but simply a set of symptoms. (wikipedia.org)
  • Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage. (wikipedia.org)
  • In medicine, a broad definition of syndrome is used, which describes a collection of symptoms and findings without necessarily tying them to a single identifiable pathogenesis. (wikipedia.org)
  • The syndrome is typically diagnosed based on the symptoms, but genetic testing provides a full confirmation. (wikipedia.org)
  • The syndrome was first identified based on symptoms in two siblings by Norwegian paediatrician Petter Strømme and his associates in 1993. (wikipedia.org)
  • The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. (wikipedia.org)
  • Susac's syndrome is a very rare disease, of unknown cause, and many persons who experience it do not display the bizarre symptoms named here. (wikipedia.org)
  • If close attention is not paid to the retina of a patient with vision loss and brain lesions, their symptoms may be mistaken for MS instead of Susac's syndrome. (wikipedia.org)
  • In patients that have already been diagnosed with sarcoidosis, Heerfordt syndrome can be inferred from the major symptoms of the syndrome, which include parotitis, fever, facial nerve palsy and anterior uveitis. (wikipedia.org)
  • The diagnosis of Bohring-Opitz syndrome (BOS) is established in a proband with suggestive clinical features and/or the identification of a constitutional heterozygous pathogenic variant in ASXL1 by molecular genetic testing . (nih.gov)
  • This graph depicts the general finding of a low relative risk associated with common, low-penetrance genetic variants, such as single-nucleotide polymorphisms identified in genome-wide association studies, and a higher relative risk associated with rare, high-penetrance genetic variants, such as pathogenic variants in the BRCA1 / BRCA2 genes associated with hereditary breast and ovarian cancer and the mismatch repair genes associated with Lynch syndrome. (cancer.gov)
  • Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. (ebi.ac.uk)
  • XYY syndrome is a genetic condition found in males only. (kidshealth.org)
  • Fragile X syndrome (FXS), or Martin-Bell syndrome , is a genetic syndrome which results in a spectrum of characteristic physical and intellectual limitations and emotional and behavioral features which range from severe to mild in manifestation. (princeton.edu)
  • Down's syndrome, also known as Down syndrome or trisomy 21, is a genetic condition that typically causes some level of learning disability and certain physical characteristics. (www.nhs.uk)
  • Hyper-IgM Syndrome (HIM) is a rare genetic (primary) immunodeficiency disorder that is typically inherited as an X-linked recessive genetic trait. (webmd.com)
  • Because approximately 70 percent of reported cases of Hyper-IgM Syndrome are inherited as an X-linked recessive genetic trait, the vast majority of affected individuals are male. (webmd.com)
  • Usher syndrome is a genetic condition involving sensorineural hearing loss and retinitis pigmentosa (RP). (asha.org)
  • Estimates are that 1 in 10 persons carries some form of recessive gene for Usher syndrome (W. Kimberling, personal communication, 2009), but because there are many different genetic versions of Usher syndrome there is only a small chance of a specific carrier mating with an identical carrier. (asha.org)
  • Rett syndrome is a rare genetic disorder that affects brain development, resulting in severe mental and physical disability. (www.nhs.uk)
  • Down syndrome is a genetic disorder that causes physical problems and intellectual disabilities. (familydoctor.org)
  • The extra genetic material causes the features and problems of Down syndrome. (familydoctor.org)
  • Barth syndrome is a rare, genetic disorder that affects males. (news-medical.net)
  • Genetic testing is being used more often to identify abnormal genes associated with Alagille syndrome. (cincinnatichildrens.org)
  • A genetic mutation inherited from a parent or acquired at conception causes Noonan syndrome. (medicinenet.com)
  • Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in. (medicinenet.com)
  • Risk factors include female gender , increasing age, genetic variants, and a family history of restless legs syndrome. (psychologytoday.com)
  • Since its first report in 2000, significant progress has been made in defining the genetic and cellular basis of SQTS as well as in therapeutic approaches to treating this syndrome. (uptodate.com)
  • 11. Which of the following syndromes corresponds to: maternal genetic phenotype syndrome? (testprepreview.com)
  • Alagille syndrome is a genetic disorder that may affect many different parts of the body, including the liver. (nih.gov)
  • Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. (wikipedia.org)
  • In 2015, mutations in CENPF were first identified as pathogenic, and a 2016 genetic analysis of Strømme's original two siblings found that both had mutations in both of their copies of CENPF, establishing it as the cause of the syndrome. (wikipedia.org)
  • The two main clinical features of Turner syndrome are short stature and the lack of the development of the ovaries. (genome.gov)
  • Pediatricians are most familiar with the clinical findings that prompt the diagnosis of Turner syndrome in children, namely, short stature and other features, such as lymphedema, webbed neck, low posterior hairline, and cubitus valgus. (aappublications.org)
  • CDC recommends healthcare providers report any patient who meets the case definition to local, state, and territorial health departments to enhance knowledge of risk factors, pathogenesis, clinical course, and treatment of this syndrome. (cdc.gov)
  • Prior to the identification of the molecular cause of Bohring-Opitz syndrome (BOS), Hastings et al [2011] had proposed clinical diagnostic criteria for the condition. (nih.gov)
  • The syndrome was named after Donald Young, the urologist who first made observations of the clinical signs of the syndrome in 1972. (wikipedia.org)
  • If your child has Down's syndrome, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). (www.nhs.uk)
  • When hearing loss is accompanied by other clinical findings, it is often classified as a syndrome, and there are more than 400 such syndromes outlined by Gorlin, Torell, and Cohen (1995). (asha.org)
  • Although it is highly heterogenic, there are least 10 genes that cause Usher syndrome (W. Kimberling, personal communication, 2009), and there are three phenotypic or clinical presentation types generally recognized. (asha.org)
  • 1. CASE OF THE WEEK PROFESSOR YASSER METWALLY CLINICAL PICTURE CLINICAL PICTURE: 11 years old female patient presented with congenital left sided hemiaplasia and Lennox Gastaut syndrome. (slideshare.net)
  • A clinical picture of dry eye and dry mouth with the histological counterpart of focal lymphocytic sialoadenitis, usually detected in minor salivary glands, is considered the hallmark of Sjögren's syndrome. (biomedcentral.com)
  • What have we learned from clinical trials in primary Sjögren's syndrome about pathogenesis? (biomedcentral.com)
  • Many cases of the syndrome go undetected because the clinical features are very mild. (news-medical.net)
  • Becker nevus syndrome is diagnosed on the basis of the clinical features and androgen receptor assay. (news-medical.net)
  • See 'Overview of sudden cardiac arrest and sudden cardiac death' and 'Congenital long QT syndrome: Epidemiology and clinical manifestations' . (uptodate.com)
  • Gussak I, Antzelevitch C, Goodman D, Bjerregaard P. Short QT interval: ECG phenomenon and clinical syndrome. (uptodate.com)
  • Chandler syndrome is the most common of the clinical variants and makes up approximately 50% of the cases of ICE syndrome. (aao.org)
  • In order to provide up-to-date care for people with Turner syndrome, we follow the 2017 Clinical Practice Guidelines established by Claus Gravholt, MD, PhD, and collaborators (including clinic co-director Angela Lin, MD.) Additionally, we help our patients and families appreciate the value of a care plan so that they may effectively coordinate with various healthcare providers as they grow older. (massgeneral.org)
  • Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. (wikipedia.org)
  • Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. (genome.gov)
  • Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome. (genome.gov)
  • After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. (medlineplus.gov)
  • As a result, too much skin shedding takes place, and the stratum corneum is too thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. (medlineplus.gov)
  • The blood test looks for markers of abnormalities that could indicate Down syndrome. (familydoctor.org)
  • DISCUSSION DISCUSSION: The Aicardi syndrome (AS) is classically defined as a triad of abnormalities that includes agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae (1,2). (slideshare.net)
  • Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart . (webmd.com)
  • Noonan syndrome is a disorder characterized by birth defects such as multiple unusual facial characteristics, short stature , heart defects, bleeding problems, developmental delays, and abnormalities of the bones of the rib cage. (medicinenet.com)
  • Critics point out that the new test doesn't detect other chromosomal abnormalities, including some rare forms of Down syndrome, that do get picked up through CVS and amniocentesis. (nypost.com)
  • What is metabolic syndrome? (labtestsonline.org)
  • Metabolic syndrome is a set of risk factors that increases a person's chance of developing serious conditions such as cardiovascular disease (CVD) , type 2 diabetes , and stroke . (labtestsonline.org)
  • Metabolic syndrome is a common condition that goes by many names (dysmetabolic syndrome, syndrome X, insulin resistance syndrome, obesity syndrome, and Reaven syndrome). (labtestsonline.org)
  • The National Heart, Lung and Blood Institute (NHLBI) estimates that about 34% of Americans have metabolic syndrome. (labtestsonline.org)
  • While several national and international organizations use certain criteria to define metabolic syndrome, others, including the American Diabetes Association (ADA), question the value of the specific diagnosis of metabolic syndrome. (labtestsonline.org)
  • The science needs to be clearer, suggests the ADA, before metabolic syndrome be considered a definable syndrome. (labtestsonline.org)
  • The World Health Organization (WHO) was the first to publish an internationally accepted definition for metabolic syndrome in 1998, but the criteria that have received the most widespread acceptance and use in the United States are those established in 2002 as guidelines in the third report of the National Cholesterol Education Program expert panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (ATP III). (labtestsonline.org)
  • In 2005, the American Heart Association (AHA) in conjunction with the NHLBI also released a scientific statement regarding metabolic syndrome that includes a set of criteria that defines the condition. (labtestsonline.org)
  • In order to provide more consistency in both patient care and research, the International Diabetes Federation, NHLBI, AHA, World Heart Federation, and the International Association for the Study of Obesity published a joint statement in 2009 that describes a "harmonized" definition of metabolic syndrome. (labtestsonline.org)
  • Also frequently seen with metabolic syndrome are tendencies for excessive blood clotting and inflammation. (labtestsonline.org)
  • If left untreated, complications from diseases associated with untreated metabolic syndrome can develop in as few as 15 years. (labtestsonline.org)
  • Metabolic syndrome is a group of medical problems that put some teens at risk for heart disease and type 2 diabetes as adults. (kidshealth.org)
  • What Causes Metabolic Syndrome? (kidshealth.org)
  • Being overweight is the main reason that people get metabolic syndrome. (kidshealth.org)
  • Insulin resistance and inflammation add to the problems linked to metabolic syndrome. (kidshealth.org)
  • Who Gets Metabolic Syndrome? (kidshealth.org)
  • But most teens with metabolic syndrome are overweight. (kidshealth.org)
  • As obesity gets worse, metabolic syndrome becomes more likely. (kidshealth.org)
  • Obesity and the problems associated with metabolic syndrome tend to run in families. (kidshealth.org)
  • How Is Metabolic Syndrome Diagnosed? (kidshealth.org)
  • Finding out that you have metabolic syndrome can help you take steps to prevent diseases down the road. (kidshealth.org)
  • Doctors might suspect metabolic syndrome if an overweight or obese teen has acanthosis nigricans or a family history of diabetes or heart disease. (kidshealth.org)
  • Because metabolic syndrome and obesity tend to go hand-in-hand, doctors might order more tests to look for other weight-related problems, like fatty liver, PCOS, and apnea. (kidshealth.org)
  • How Is Metabolic Syndrome Treated? (kidshealth.org)
  • The good news is that you can do many things to help keep yourself from getting the health problems that metabolic syndrome can lead to. (kidshealth.org)
  • Doctors might recommend weight loss surgery for some teens with metabolic syndrome and severe obesity who do not respond to lifestyle changes. (kidshealth.org)
  • HealthDay News) -- Metabolic syndrome is a cluster of disordersthat signal a person's increased risk of diabetes , heart disease and stroke , the American Heart Association says. (medicinenet.com)
  • Metabolic syndrome is commonly associated with being overweight , lack of physical activity and advanced age. (medicinenet.com)
  • What is metabolic syndrome and who is at risk? (medicinenet.com)
  • The metabolic syndrome is the name of a cluster of risk factors that, when they appear together, dramatically raise your risk of heart disease, heart failure, stroke and diabetes, as well as other non-cardiovascular conditions. (hopkinsmedicine.org)
  • Nearly one in three Americans have metabolic syndrome. (hopkinsmedicine.org)
  • Understanding that you have metabolic syndrome in the first place can help motivate you to make the needed changes. (hopkinsmedicine.org)
  • Most people who have metabolic syndrome already have a closely related condition called insulin resistance, which is when the body stops responding to insulin (a hormone produced in the pancreas). (hopkinsmedicine.org)
  • The good news is that there are several promising strategies for combating metabolic syndrome and reducing your risk," Ndumele says. (hopkinsmedicine.org)
  • It's important to work with your doctor to assess your overall risk of metabolic syndrome and related heart problems, says Ndumele. (hopkinsmedicine.org)
  • A diagnosis of metabolic syndrome comes after the identification of at least three of the following five key risk factors. (hopkinsmedicine.org)
  • Although obesity in general raises your risk of metabolic syndrome, excess belly fat (being "apple-shaped") is the riskiest kind of fat, defined as more than 40 inches around the waist for men, or more than 35 inches for women. (hopkinsmedicine.org)
  • A different set of guidelines from the International Diabetes Federation calls for a diagnosis of metabolic syndrome if there's too much belly fat plus at least two of the four traits, Ndumele says. (hopkinsmedicine.org)
  • Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. (malacards.org)
  • Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria, and low-molecular-weight proteinuria. (wikipedia.org)
  • Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. (ebi.ac.uk)
  • Type I Usher syndrome presents with congenital, profound sensorineural loss (see Figure 2A) and no vestibular function. (asha.org)
  • R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. (malacards.org)
  • medical citation needed] This syndrome is caused by mutations in the OCRL1 gene which encodes a inositol polyphosphate-5-phosphatase. (wikipedia.org)
  • At least one mechanism by which these mutations cause this syndrome is by loss of its Rab binding domain. (wikipedia.org)
  • Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (springer.com)
  • Netherton syndrome is caused by mutations in the SPINK5 gene. (medlineplus.gov)
  • The authors say that their findings indicate that "loss-of-function mutations in FANCM cause a cancer predisposition syndrome clinically distinct from bona fide FA [Fanconi anemia]. (medicalnewstoday.com)
  • Taken together, the researchers say that the two studies indicate that biallelic mutations in the FANCM gene cause a type of cancer predisposition syndrome, rather than Fanconi anemia. (medicalnewstoday.com)
  • The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. (hindawi.com)
  • Gene mutations cause Alagille syndrome. (nih.gov)
  • The syndrome is caused by mutations in both copies of the CENPF gene, which codes for centromere protein F. This protein is involved in cell division, in which it forms part of a disc-shaped protein complex known as a kinetochore. (wikipedia.org)
  • Mutations in the gene result in slower cell division and some embryonic developmental processes being disrupted or not completed, and the syndrome can be classified as a ciliopathy. (wikipedia.org)
  • At least two individuals with the syndrome in literature have avoided intestinal atresia, one of which had a sibling with the same mutations who did not. (wikipedia.org)
  • On April 26, 2020, clinicians in the United Kingdom (UK) recognized increased reports of previously healthy children presenting with a severe inflammatory syndrome with Kawasaki disease-like features. (cdc.gov)
  • Additional reports of children presenting with severe inflammatory syndrome with a laboratory-confirmed case of COVID-19 or an epidemiological link to a COVID-19 case have been reported by authorities in other countries. (cdc.gov)
  • Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. (nih.gov)
  • If you have severe serotonin syndrome, you'll need intensive treatment in a hospital. (mayoclinic.org)
  • Korsakoff syndrome , also called Korsakoff psychosis , or Korsakoff disease , neurological disorder characterized by severe amnesia (memory loss). (britannica.com)
  • Powerful steroids may need to be used for severe asthma and many other conditions, in which case some degree of Cushing's syndrome may have to be accepted. (netdoctor.co.uk)
  • The "progressive iris atrophy" variant of ICE syndrome is characterized by severe progressive iris atrophy resulting in heterochromia, corectopia, ectropion uveae, iris stromal and pigment epithelial atrophy, and hole formation ( Fig 5-18 ). (aao.org)
  • The iris atrophy tends to be less severe in Cogan-Reese syndrome. (aao.org)
  • Glaucoma occurs in approximately 50% of patients with ICE syndrome, and the glaucoma tends to be more severe in progressive iris atrophy and Cogan-Reese syndrome. (aao.org)
  • Furthermore, patients with severe postthrombotic syndrome had a considerably lower quality of life than patients with mild or moderate forms of the syndrome. (cmaj.ca)
  • A Cochrane review 4 reported that compression stockings (30-40 mm Hg) used early after the diagnosis of DVT were associated with a 69% reduction in the odds of postthrombotic syndrome developing and a 61% reduction in the odds of severe postthrombotic syndrome. (cmaj.ca)
  • However, the syndrome has a wide range of severity that generally runs in the family it presents in, ranging from only mild learning disability and microcephaly with no other features in some families to death in utero with severe kidney, heart, eye, skeletal, brain and intestinal malformations in others. (wikipedia.org)
  • Turner syndrome, as used in this report, refers to a condition characterized by short stature and ovarian dysgenesis in females who have a single X chromosome and absence of all or part of the second sex chromosome (X or Y). Nonchromosomal gonadal dysgenesis is excluded. (aappublications.org)
  • 1 - 3 Later in childhood, Turner syndrome may be suspected primarily because of short stature. (aappublications.org)
  • The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature. (medlineplus.gov)
  • Therefore, when an X-linked disorder is identified in a female, the possibility of Turner syndrome caused by monosomy X (absence of an X chromosome: 45,X) or a structural abnormality of an X chromosome should be considered. (aappublications.org)
  • Irritable bowel syndrome (IBS) is a chronic condition characterised by abdominal pain, bowel dysfunction, and abdominal bloating in the absence of any structural abnormality. (bmj.com)
  • The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair. (medlineplus.gov)
  • This could indicate an abnormality, including Down syndrome. (familydoctor.org)
  • Turner syndrome is a chromosomal condition related to the X chromosome . (genome.gov)
  • A female with 45,X Turner syndrome may manifest an X-linked recessive disorder, such as hemophilia, because she has only 1 X chromosome. (aappublications.org)
  • Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S (2004) Chromosome 21 and down syndrome: from genomics to pathophysiology. (springer.com)
  • Boys typically have one X chromosome and one Y chromosome, or XY, but boys with XYY syndrome have an extra Y chromosome, or XYY. (kidshealth.org)
  • When the extra chromosome is the result of incorrect cell division early in the embryo's development, a boy may have a mosaic form of XYY syndrome. (kidshealth.org)
  • To diagnosis XYY syndrome, a blood sample is checked for the presence of the extra Y chromosome. (kidshealth.org)
  • The syndrome is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome , and results in a failure to express the protein coded by the FMR1 gene, which is required for normal neural development. (princeton.edu)
  • In Renpenning's syndrome, there is no fragile site on the X chromosome. (princeton.edu)
  • Down's syndrome is usually caused by an extra chromosome in a baby's cells. (www.nhs.uk)
  • Almost all cases of Rett syndrome are caused by a mutation (a change in the DNA ) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes ). (www.nhs.uk)
  • People with Down syndrome typically have an extra copy of one of their chromosomes, usually chromosome 21, which changes their body and brain's development and causes mental and physical problems such as mild to moderate mental retardation and unusual facial characteristics. (nypost.com)
  • While many syndromes may be identified clinically, this strategy has resulted in a significant delay in the diagnosis of Usher syndrome. (asha.org)
  • The report is meant to serve as a supplement to the American Academy of Pediatrics' "Recommendations for Preventive Pediatric Care" and emphasizes the importance of continuity of care and the need to avoid its fragmentation by ensuring a medical home for every girl with Turner syndrome. (aappublications.org)
  • See 'Pathophysiology of the long QT syndrome' . (uptodate.com)
  • Individuals with Hyper-IgM Syndrome are also susceptible to "opportunistic" infections, i.e., infections caused by microorganisms that usually do not cause disease in individuals with fully functioning immune systems (non-immunocompromised) or widespread (systemic) overwhelming disease by microorganisms that typically cause only localized, mild infections. (webmd.com)
  • The American Psychiatric Association currently considers Asperger's syndrome to be a relatively mild manifestation of autism spectrum disorder . (wiktionary.org)
  • Turner syndrome is a chromosomal condition that alters development in females. (genome.gov)
  • Down syndrome is a naturally occurring chromosomal arrangement that has always been a part of the human condition, exists in all regions across the globe and commonly results in variable effects on learning styles, physical characteristics or health. (un.org)
  • 18. Which of the following syndromes corresponds to: chromosomal deficit of #5? (testprepreview.com)
  • 20. Which of the following syndromes corresponds to: chromosomal deficit of #13? (testprepreview.com)
  • There are vestibular syndrome dogs prednisone anyway known patients of prescription pathology with head. (genericpharmashop.com)
  • Challenges in understanding Sjögren's syndrome - improved insights into the pathogenesis generate hope for innovative therapies? (biomedcentral.com)
  • Previously, a dominant role of the adaptive immune system in the pathogenesis of Sjögren's syndrome was suspected. (biomedcentral.com)
  • Circumstantial evidence suggests that retroviruses play a role in the pathogenesis of Sjögren's syndrome. (biomedcentral.com)
  • In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words syndrome, disease, and disorder end up being used interchangeably for them. (wikipedia.org)
  • Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. (genome.gov)
  • It is currently unknown if multisystem inflammatory syndrome is specific to children or if it also occurs in adults. (cdc.gov)
  • 53 McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in males. (malacards.org)
  • Nephrotic syndrome, however, occurs when this filter becomes defective, allowing large quantities of protein to leave the blood circulation, and pass out or the body in the urine. (encyclopedia.com)
  • onset in early childhood, and Werner syndrome (adult progeria), which occurs later in life. (britannica.com)
  • Neonatal abstinence syndrome (NAS) occurs in babies who had drug exposure in the womb. (familydoctor.org)
  • The birth prevalence of Turner syndrome has been estimated to be from 1 in 2000 to 1 in 5000 female live births. (aappublications.org)
  • Investigators reviewed mental health history and prevalence of eating disorders in nearly 1,600 university students and discovered that close to 4 percent of students met night eating syndrome criteria. (forbes.com)
  • The prevalence statistics of restless legs syndrome vary widely but range from 2 to 7.2 percent of the general population. (psychologytoday.com)
  • The prevalence of restless legs syndrome increases with age, and women are more likely than males to have this condition. (psychologytoday.com)
  • Alagille syndrome is a rare, inherited disorder. (cincinnatichildrens.org)
  • Often, patients with Alagille syndrome have a distinctive facial appearance. (cincinnatichildrens.org)
  • There is a 50 percent chance a parent with Alagille syndrome will transmit this disorder to his or her child. (cincinnatichildrens.org)
  • Family members with Alagille syndrome may be affected very differently by the disorder. (cincinnatichildrens.org)
  • Reduced bile flow is one finding that indicates Alagille syndrome. (cincinnatichildrens.org)
  • There is no cure for Alagille syndrome. (cincinnatichildrens.org)
  • These same medicines may be used to treat high cholesterol levels that cause the hard, whitish nodules that develop in the skin of patients with Alagille syndrome. (cincinnatichildrens.org)
  • A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. (nih.gov)
  • Doctors may refer people with Alagille syndrome to doctors who specialize in the liver, heart, blood vessels, or kidneys to treat the disease. (nih.gov)
  • Getting enough nutrients is important for people who have Alagille syndrome, especially for infants and children. (nih.gov)
  • If you or your child has Alagille syndrome, talk with a doctor or dietitian about a healthy eating plan. (nih.gov)
  • Treatment for restless legs syndrome depends on the severity of the condition. (psychologytoday.com)
  • The potential exists in the urban environment (with the potential of building collapses) to have patients with crush syndrome that far exceed local medical capabilities should be part of modern disaster planning. (nih.gov)
  • Patients with nephrotic syndrome are from all age groups, although in children there is an increased risk of the disorder between the ages of 18 months and four years. (encyclopedia.com)
  • Patients with Korsakoff syndrome typically are unable to remember events in the recent or even the immediate past, and some can store information for only a few seconds before they forget it. (britannica.com)
  • Such evidence, derived from studies of patients with Sjögren's syndrome, includes the following: the pr. (biomedcentral.com)
  • Doctors eventually determined that Mrs. Lee had suffered from broken-heart syndrome, a name given by doctors who observed that it seemed to especially affect patients who had recently lost a spouse or other family member. (wsj.com)
  • A viral cause has been postulated for the mechanism of ICE syndrome after lymphocytes were seen on the corneal endothelium of affected patients. (aao.org)
  • The diagnosis of ICE syndrome must always be considered in young to middle-aged patients who present with unilateral, secondary angle-closure glaucoma. (aao.org)
  • This syndrome is thought to be a consequence of chronic venous obstruction, venous insufficiency, increased exposure to inflammatory mediators and reduced mobility in patients who have had DVT, leading to valvular insufficiency and inadequate venous circulation. (cmaj.ca)
  • Kahn and colleagues 3 reported a significant decrease in disease-specific quality of life in patients with DVT who subsequently had postthrombotic syndrome compared with patients with DVT in whom the syndrome did not develop. (cmaj.ca)
  • 2003), MRI images from 27 patients fulfilling the diagnostic criteria of Susac's syndrome were reviewed. (wikipedia.org)
  • Multiple sclerosis (MS) and acute disseminated encephalomyelitis (ADEM) can mimic the MRI changes seen in patients with Susac's syndrome. (wikipedia.org)
  • Of those patients who have been diagnosed with Heerfordt syndrome, 15% have a close relative who also has the syndrome. (wikipedia.org)
  • The pediatrician's first contact with a child with Turner syndrome may occur during infancy or childhood. (aappublications.org)
  • In chronic alcoholism, Korsakoff syndrome may occur in combination with Wernicke disease , which results from a deficiency of thiamine and is characterized by damage to nerves in both the central and peripheral nervous system . (britannica.com)
  • In Chandler syndrome, minimal iris atrophy and corectopia occur, and the corneal and angle findings predominate ( Fig 5-19 ). (aao.org)
  • Usher syndrome is named after Charles Usher, a British ophthalmologist who described the nature of the disease in 1914. (asha.org)
  • Alport's syndrome ( awl -ports) n. a hereditary disease that causes nephritis accompanied by deafness. (encyclopedia.com)
  • America is plagued by the disease of Special Snowflake Syndrome . (wiktionary.org)
  • Over 4,000 children in northern Uganda are afflicted by nodding syndrome, a disease which affects the neurological system, is of unknown origins and has no known cure. (wsj.com)
  • Barth syndrome is suspected if a person presents with one of the main characteristics of the disease or if there is a family history of the condition. (news-medical.net)
  • Sjögren's syndrome (SS), a systemic autoimmune disease, is characterized by inflammation of exocrine tissues accompanied by a significant loss of their secretory function. (biomedcentral.com)
  • Is Sjögren's syndrome a retroviral disease? (biomedcentral.com)
  • Restless legs syndrome (RLS), also called Willis-Ekbom Disease, is a neurological sleep disorder in which a person experiences an urge to move their legs or arms, and this urge is accompanied by or in response to uncomfortable sensations in the limbs. (psychologytoday.com)
  • White-nose syndrome (WNS) is an emergent disease of hibernating bats that has spread from the northeastern to the central United States at an alarming rate. (usgs.gov)
  • White-nose syndrome is a devastating wildlife disease that has killed millions of hibernating bats. (usgs.gov)
  • 2. Which of the following syndromes corresponds to: right sided valvular disease and diarrhea? (testprepreview.com)
  • BCSC Section 8, External Disease and Cornea, discusses the corneal aspects of ICE syndrome. (aao.org)
  • When a syndrome is paired with a definite cause this becomes a disease. (wikipedia.org)
  • In other instances, a syndrome is not specific to only one disease. (wikipedia.org)
  • William F. Hoyt was the first to call the syndrome "Susac syndrome" and later Robert Daroff asked Dr. Susac to write an editorial in Neurology about the disorder and to use the eponym of Susac syndrome in the title, forever linking this disease with him. (wikipedia.org)
  • We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. (springer.com)
  • The hippocampus and cerebellum reduced sizes that were seen in all the strains indicate that trisomy 21 is not only a hippocampus syndrome but that it results from abnormal interactions between the two structures. (springer.com)
  • Up to 95% of people with Down syndrome have Trisomy 21. (familydoctor.org)
  • Sometimes a crying baby is more than you can bear, but shaking your baby out of frustration or anger may result in Shaken Baby Syndrome (SBS), which includes brain damage, blindness, spinal injuries and paralysis, seizures and even death. (ct.gov)
  • Call the Child Development Infoline at (800) 505-7000 for more information on preventing Shaken Baby Syndrome, or for connections to support in your community. (ct.gov)
  • But What If We're Wrong About Shaken Baby Syndrome? (reason.com)
  • 1 About 10-15% of the adult population in the United Kingdom is affected by irritable bowel syndrome. (bmj.com)
  • This report also discusses interactions with expectant parents who have been given the prenatal diagnosis of Turner syndrome and have been referred for advice. (aappublications.org)
  • Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C. Prenatal diagnosis of syndrome associating albinism and immunodefiencies (Chediak Hegashi syndrome and variant). (springer.com)
  • Screening for Down syndrome is a normal part of prenatal care. (familydoctor.org)
  • The safer prenatal screenings will likely mean more women will be tested, and the number of women carrying babies with Down syndrome who terminate their pregnancies could increase, if not skyrocket. (nypost.com)
  • We work as a team to help those with Turner syndrome and their families transition from prenatal consultation to infancy to adolescence, and through adulthood and their senior years. (massgeneral.org)
  • Young's syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome and Barry-Perkins-Young syndrome, is a rare condition that encompasses a combination of syndromes such as bronchiectasis, rhinosinusitis and reduced fertility. (wikipedia.org)
  • It has books, pamphlets, and videos about the condition and related topics, and there are state chapters and local support groups for people with or affected by Tourette syndrome. (kidshealth.org)
  • They are both at an age where they don't know what Down syndrome is versus any other human condition. (yahoo.com)
  • Although there's no "cure" for Down's syndrome, there's support available to help children with the condition lead healthy, fulfilling lives. (www.nhs.uk)
  • In addition, individuals with Hyper-IgM Syndrome are prone to certain autoimmune disorders affecting particular elements of the blood , such as neutropenia , a condition in which there is an abnormal decrease of certain white blood cells (neutrophils). (webmd.com)
  • A third condition, Hallerman-Streiff-François syndrome, is characterized by the presence of progeria in combination with dwarfism and other features of abnormal growth. (britannica.com)
  • There is no cure for Barth's syndrome and treatment is focused on managing the condition. (news-medical.net)
  • Individuals with night eating syndrome (NES) often describe feelings such as lack of control over their eating behaviors, resulting in feelings of guilt and shame related to their condition. (forbes.com)
  • Another study from JAMA noted that by 6 p.m., people with night eating syndrome consumed just about a third of their daily caloric intake, while those without the condition had consumed close to seventy five percent. (forbes.com)
  • Noonan syndrome is a condition that some babies are born with. (kidshealth.org)
  • The cause of restless legs syndrome is not clear, but there are several factors that can influence the development of the condition. (psychologytoday.com)
  • A new, simple way to detect Down syndrome in a fetus means the condition will be virtually extinct - but not without a great deal of controversy, experts say. (nypost.com)
  • Postthrombotic syndrome is a chronic but preventable condition that leads to limb pain, swelling, skin discolouration and ulceration, and rash after deep vein thrombosis (DVT) ( Figure 1 ). (cmaj.ca)
  • The condition was first described in 1909 by Danish ophthalmologist Christian Frederick Heerfordt, for whom the syndrome is now named. (wikipedia.org)
  • An important gene associated with Mcleod Syndrome is XK (X-Linked Kx Blood Group). (malacards.org)
  • An important gene associated with X-Linked Opitz G/bbb Syndrome is MID1 (Midline 1). (malacards.org)
  • As can be seen in Figure 1, when both parents are asymptomatic carriers of the Usher syndrome gene, they have a 25% chance with each pregnancy of producing a child with Usher syndrome. (asha.org)
  • This suggests that this syndrome is due to dysfunction of the cilia in these cells. (wikipedia.org)
  • Diagnosing cognitive dysfunction syndrome (CDS) can be tricky. (petfinder.com)
  • Prescription medications in addition to dietary and lifestyle changes may be beneficial to dogs with cognitive dysfunction syndrome. (petfinder.com)
  • Learn about cognitive dysfunction syndrome (CDS) in pets here. (petfinder.com)
  • Changes in your dog or cat's diet can play a big part in treating cognitive dysfunction syndrome (CDS). (petfinder.com)
  • Studies show that enriching a pet's environment can prevent or delay cognitive dysfunction syndrome (CDS). (petfinder.com)
  • Cognitive dysfunction syndrome: Can medication treat dementia in pets? (petfinder.com)
  • Last time we wrote about how one form of dementia - cognitive dysfunction syndrome or CDS - can be treated with diet and supplements. (petfinder.com)
  • Last time we wrote about how cognitive dysfunction syndrome, or CDS, is diagnosed. (petfinder.com)
  • Recently we wrote about cognitive dysfunction syndrome, or CDS, in senior pets. (petfinder.com)
  • Cognitive dysfunction syndrome: Could my senior pet have dementia? (petfinder.com)
  • 8. Which of the following syndromes corresponds to: hematuria, glomerulonephritis and pulmonary dysfunction? (testprepreview.com)
  • What is the treatment for Turner syndrome? (genome.gov)
  • Inclusion in our schools and workplaces is improving every year, and medical and mental health treatment has advanced tremendously in the past couple of decades, but we still have big-hearted and intelligent teens thinking of Down syndrome as something outside of "normal. (yahoo.com)
  • Treatment depends on the underlying disorder which has caused nephrotic syndrome. (encyclopedia.com)
  • The diagnosis and treatment of plica syndrome will be reviewed here. (uptodate.com)
  • Usually, the treatment approach to Barth's syndrome involves a team of specialists including experts in biochemistry, genetics and neurology as well as nurses, social workers, nutritionists and physical and occupational therapists. (news-medical.net)
  • GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. (hindawi.com)
  • 5 A systematic review showed that long-term treatment with low-molecular weight heparin after DVT resulted in a lower incidence of postthrombotic syndrome than treatment with anticoagulants administered orally. (cmaj.ca)
  • Psychiatric syndromes often called psychopathological syndromes (psychopathology refers both to psychic dysfunctions occurring in mental disorders, and the study of the origin, diagnosis, development, and treatment of mental disorders). (wikipedia.org)
  • My husband and take ropinirole for restless leg syndrome. (drugs.com)
  • No single test can confirm a serotonin syndrome diagnosis. (mayoclinic.org)
  • Milder forms of serotonin syndrome usually go away within 24 to 72 hours of stopping medications that increase serotonin, and by taking medications to block the effects of serotonin already in your system if they're needed. (mayoclinic.org)
  • I had serotonin syndrome (poisoning) after taking Zoloft for years.I was ill with nausea ,muscle weakness and stiffness and excessive sleepiness. (drugs.com)
  • hello, i believe i am having serotonin syndrome. (drugs.com)
  • I finally went to a neurologist after I had seizures and she diagnosed the serotonin syndrome. (drugs.com)
  • and 2) a case definition for this syndrome. (cdc.gov)
  • Young syndrome at NIH's Office of Rare Diseases Young's syndrome - General Practice Notebook Definition: Young syndrome from Online Medical Dictionary Young, M (January 2003). (wikipedia.org)
  • The operative definition of political derangement began to shift from the minute these "syndromes" were first "diagnosed. (thedailybeast.com)
  • The more specific definition employed in medical genetics describes a subset of all medical syndromes. (wikipedia.org)
  • This disturbance, now called the Korsakoff syndrome , has been reported for a variety of brain disorders aside from alcoholism and appears to result from damage in a relatively localized part of the brain. (britannica.com)
  • As a result, it is possible that other disorders may increase the risk of developing a nighttime eating syndrome. (forbes.com)
  • Iridocorneal endothelial (ICE) syndrome is a group of disorders characterized by abnormal corneal endothelium that causes variable degrees of iris atrophy, secondary angle-closure glaucoma, and corneal edema. (aao.org)
  • Myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS) is a debilitating disorder linked to diverse intracellular infections as well as physiological stress. (frontiersin.org)
  • Myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS) is a heterogeneous disorder of unknown etiology. (frontiersin.org)
  • Korsakoff syndrome is often a transient manifestation of some other brain disorder, but some cases are chronic. (britannica.com)
  • Although intelligence is normal, individuals with Turner syndrome are at risk of impairments in the cognitive, behavioral, and social domains. (aappublications.org)
  • Belichenko NP, Belichenko PV, Kleschevnikov AM, Salehi A, Reeves RH, Mobley WC (2009) The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome. (springer.com)
  • 75 McLeod syndrome: A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. (malacards.org)
  • Bohring-Opitz syndrome (BOS) is typically the result of a de novo pathogenic variant in ASXL1 . (nih.gov)
  • Newborn hearing screening has reduced the age of identification of children with hearing loss from 12-18 months to 6 months or less (Harrison & Rousch, 1996), but the diagnosis of Usher syndrome, with its devastating vision loss, typically lags 5-10 years behind the identification of the hearing loss (Kimberling & Lindenmuth, 2007). (asha.org)
  • Individuals with Strømme syndrome are typically born with intestinal atresia, in which parts of the intestine are narrow or missing, leading to neonatal bowel obstruction that must be operated on. (wikipedia.org)
  • In a study published last month in Genetics in Medicine, MaterniT21 detected 98.6% of Down syndrome cases. (nypost.com)
  • Several countries that have experienced Zika outbreaks recently have reported increases in people who have Guillain-Barré syndrome (GBS). (cdc.gov)
  • To prevent these people while you are code stopping dose with this prednisone, vestibular syndrome dogs prednisone your depression may reduce your art just. (genericpharmashop.com)
  • People with Down's syndrome will also have different personalities and abilities. (www.nhs.uk)
  • Lots of people with Down's syndrome are able to leave home, have relationships, work, and lead largely independent lives. (www.nhs.uk)
  • People with Netherton syndrome have hair that is fragile and breaks easily. (medlineplus.gov)
  • Most people with Netherton syndrome have immune system-related problems such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema. (medlineplus.gov)
  • Although we all like to think we are unique and experience the world in our own way-we all have a touch of the Special Snowflake Syndrome -people are in fact more alike than different. (wiktionary.org)
  • Many people with Down syndrome share a distinct appearance. (familydoctor.org)
  • In addition to physical signs, people with Down syndrome often have problems with thinking and learning. (familydoctor.org)
  • Most people identified as having this syndrome have been educated about the importance of watching for signs of diabetes, having their blood pressure monitored and lipid levels checked, and exercising - but there has been little to tie all of these factors together except pursuit of a "healthier lifestyle. (labtestsonline.org)
  • Other research indicates that people with night eating syndrome tend to suffer from a distinct form of depression. (forbes.com)
  • People with restless legs syndrome experience uncomfortable feelings in their legs and have a strong desire to move their legs. (psychologytoday.com)
  • What you end up having is a world without people with Down syndrome," says Paul Root Wolpe, director of the center for ethics at Emory University. (nypost.com)
  • Our clinic provides a medical home for people of all ages with Turner syndrome. (massgeneral.org)
  • We are a subspecialty program, which means that we do not serve as primary care, but instead we provide each patient with a comprehensive evaluation, specific to the needs of people with Turner syndrome. (massgeneral.org)
  • Additionally, we think of our clinic as a wellness center to emphasize that people with Turner syndrome are generally healthy but have ongoing medical needs. (massgeneral.org)
  • The theory of sanitation syndrome implicated urban whites in creating segregated cities in South Africa, as many of the people causing and complicit with the forced relocations were members of the urban middle and upper classes. (wikipedia.org)
  • Numbers shown below are registered as labeling or manufacturing signs of cheapest prednisone through the vestibular syndrome dogs prednisone fda. (genericpharmashop.com)
  • At first, the child will appear to develop and grow normally for at least 6 months, although (especially with hindsight) there may be subtle signs of Rett syndrome before the child is recognised as having a problem. (www.nhs.uk)
  • A doctor may suspect Cushing syndrome if a person has the telltale signs, such as a rounded face, a pad of fatty tissue between the shoulders, thin skin with bruises and stretch marks, and poor growth. (kidshealth.org)
  • Abnormal facial features are prominent signs of Noonan syndrome. (medicinenet.com)
  • Although children with Down's syndrome share some common physical characteristics, they don't all look the same. (www.nhs.uk)
  • Read more about the characteristics of Down's syndrome . (www.nhs.uk)
  • Skotko says that because more older women are having babies than ever before, the percentage of babies born with Down syndrome should have risen 42% between 1989 and 2006. (nypost.com)
  • Today, about 6,000 babies with Down syndrome are born each year, according to the National Down Syndrome Society - and 80% are born to women under the age of 35. (nypost.com)
  • In contrast to long QT syndrome, another channelopathy, ion channel defects associated with SQTS lead to abnormal abbreviation of repolarization, predisposing affected individuals to a risk of atrial and ventricular arrhythmias. (uptodate.com)
  • 12. Which of the following syndromes corresponds to: Abnormal development of the 3rd and 4th (Pharyngeal pouches)? (testprepreview.com)
  • Online Mendelian Inheritance in Man (OMIM) Young syndrome -279000 Hendry WF, A'Hern RP, Cole PJ (1993). (wikipedia.org)
  • Growth in children with Turner syndrome is characterized by a slight intrauterine growth restriction, slow growth during infancy and childhood, and lack of a pubertal growth spurt. (aappublications.org)
  • In early May 2020, the New York City Department of Health and Mental Hygiene received reports of children with multisystem inflammatory syndrome. (cdc.gov)
  • A child with Down's will look more like their family members than other children who have the syndrome. (www.nhs.uk)
  • You may also be offered an appointment to meet a doctor or other health professional who works with children with Down's syndrome. (www.nhs.uk)
  • Therefore, audiologists are in a position to improve differential diagnosis outcomes for children with Usher syndrome. (asha.org)
  • Some children with Rett syndrome are affected more severely than others. (www.nhs.uk)
  • Most children with Noonan syndrome have differences in the shape of their face and head. (kidshealth.org)
  • Children of a parent who has Noonan syndrome have a 50% chance of having it too. (kidshealth.org)
  • In children, doctors might suspect Cushing syndrome when a child is gaining weight but not growing as expected. (kidshealth.org)
  • Children with Cushing syndrome will have follow-up visits with their pediatric endocrinologist every 3-6 months. (kidshealth.org)
  • This is exactly the same syndrome as when young children find it impossible to believe anything negative about their parents. (psychologytoday.com)
  • Welcome to the Turner Syndrome (TS) Clinic at MassGeneral Hospital for Children. (massgeneral.org)
  • What is Turner syndrome? (genome.gov)
  • Girls who have Turner syndrome are shorter than average. (genome.gov)
  • Non-functioning ovaries are another symptom of Turner syndrome. (genome.gov)
  • This does not happen in most girls who have Turner syndrome. (genome.gov)
  • In early childhood, girls who have Turner syndrome may have frequent middle ear infections. (genome.gov)
  • Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. (genome.gov)
  • The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. (genome.gov)
  • Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. (genome.gov)
  • How is Turner syndrome diagnosed? (genome.gov)
  • A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples. (genome.gov)
  • Turner syndrome may be suspected in pregnancy during an ultrasound test. (genome.gov)
  • More information about this will be discussed in the section "Is Turner syndrome inherited? (genome.gov)
  • This report is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotyping. (aappublications.org)
  • 8 - 12 As a result, the nonverbal IQ in persons with Turner syndrome tends to be lower than the verbal IQ. (aappublications.org)
  • The Turner syndrome clinic provides compassionate care with a multidisciplinary approach. (massgeneral.org)
  • Our clinic was inspired by a wish to help those with Turner syndrome obtain resources important to their well being at a single institution. (massgeneral.org)
  • The fun quite gotten better over the skeletal two corticosteroids and vestibular syndrome dogs prednisone i move my sites sorry. (genericpharmashop.com)
  • Becker nevus syndrome, or hairy epidermal nevus syndrome, was first described by Happle in 1949, as an association of Becker nevus with breast hypoplasia on one side of the body, and ipsilateral defects of the skin, muscle and skeletal system. (news-medical.net)
  • My son was diagnosed and treated for Kawasaki syndrome in the middle of last year. (netdoctor.co.uk)
  • Kawasaki syndrome is due to an acute vasculitis or inflammation of the blood vessels. (netdoctor.co.uk)
  • Heerfordt syndrome is a rare manifestation of sarcoidosis. (wikipedia.org)
  • This article is aimed at increasing audiologists' understanding of the audiologic and visual presentation, diagnostic criteria, and intervention strategies involved with Usher syndrome. (asha.org)
  • The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. (hindawi.com)
  • Aside from the famous six-day hostage situation at the Sveriges Kreditbanken in Stockholm from which its name is derived, Stockholm syndrome is perhaps most famously associated with the iconic photo of a beret-wearing, gun-toting Patty Hearst robbing a bank in April 1974. (history.com)
  • The term "Stockholm syndrome" was first coined by psychiatrist Nils Bejerot, who advised law enforcement during the Stockholm hostage negotiations in 1973. (history.com)
  • The public and the media were stunned by the hostages' empathetic and defensive feelings toward their captors, and Bejerot labeled the psychological phenomenon "Stockholm syndrome. (history.com)
  • Stockholm syndrome, also known as trauma bonding or terror bonding, is born out of the hostage's instinctual sense of self-preservation: his basic survival is controlled by his captor, so rather than hate the captor, the hostage unconsciously forges a bond with him in order to survive. (history.com)