Syndrome: A characteristic symptom complex.Down Syndrome: 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)Metabolic Syndrome X: 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)Nephrotic Syndrome: 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.Sjogren's Syndrome: 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.Turner Syndrome: 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.Abnormalities, MultipleMyelodysplastic Syndromes: 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.Cushing Syndrome: 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.Acute Coronary Syndrome: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.Polycystic Ovary Syndrome: 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.Williams Syndrome: 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.DiGeorge Syndrome: 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.Horner Syndrome: 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)Prader-Willi Syndrome: 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)Long QT Syndrome: 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.Guillain-Barre 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)Hemolytic-Uremic Syndrome: 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.Compartment Syndromes: 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.Tourette Syndrome: 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)Antiphospholipid Syndrome: 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).Porcine Reproductive and Respiratory Syndrome: 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)Klinefelter Syndrome: 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.).Carpal Tunnel Syndrome: 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)Werner Syndrome: 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.Reye Syndrome: 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.Bartter Syndrome: 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.Porcine respiratory and reproductive syndrome virus: A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.HELLP Syndrome: 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.Bloom Syndrome: 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.Brugada Syndrome: 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.Ehlers-Danlos Syndrome: 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.Respiratory Distress Syndrome, Adult: 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.Angelman Syndrome: 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)Pedigree: 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.Severe Acute Respiratory Syndrome: 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.Restless Legs Syndrome: 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.Job Syndrome: 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.Wiskott-Aldrich Syndrome: 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.Mutation: 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.Paraneoplastic Syndromes: 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.Sweet Syndrome: 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.Acquired Immunodeficiency Syndrome: 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.Intellectual Disability: 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)Churg-Strauss Syndrome: 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.Sturge-Weber Syndrome: 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.Budd-Chiari Syndrome: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chediak-Higashi Syndrome: 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.Wolff-Parkinson-White Syndrome: 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.Facies: 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)Kallmann Syndrome: 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.Sick Sinus Syndrome: 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.Stevens-Johnson Syndrome: 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.Sezary Syndrome: 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).Felty Syndrome: A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.Risk Factors: 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.Usher Syndromes: 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.Beckwith-Wiedemann Syndrome: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.Alagille Syndrome: 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).Treatment Outcome: 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.Bardet-Biedl Syndrome: 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)ACTH Syndrome, Ectopic: Symptom complex due to ACTH production by non-pituitary neoplasms.Peutz-Jeghers Syndrome: 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.Hemorrhagic Fever with Renal Syndrome: 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.Oculocerebrorenal Syndrome: 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)Cockayne Syndrome: 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.Smith-Lemli-Opitz Syndrome: 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.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Wiskott-Aldrich Syndrome Protein: 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.Stiff-Person Syndrome: 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)Short Bowel Syndrome: A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.Behcet Syndrome: 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.Infant, Newborn: An infant during the first month after birth.Zollinger-Ellison Syndrome: 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.Serotonin Syndrome: 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.Hepatopulmonary Syndrome: 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).Orofaciodigital Syndromes: 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.Proteus Syndrome: 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.Duane Retraction Syndrome: 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.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Complex Regional Pain Syndromes: 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)Goldenhar Syndrome: Mandibulofacial dysostosis with congenital eyelid dermoids.Respiratory Distress Syndrome, Newborn: 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.Neuroleptic Malignant Syndrome: 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)Costello Syndrome: 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).Klippel-Feil 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.Subclavian Steal Syndrome: 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)Hantavirus Pulmonary Syndrome: 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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Neoplastic Syndromes, Hereditary: 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.Fatal Outcome: 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.Thoracic Outlet Syndrome: 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).Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Retrospective Studies: 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.White spot syndrome virus 1: A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.LEOPARD Syndrome: 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.Case-Control Studies: 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.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Li-Fraumeni Syndrome: 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.Hamartoma Syndrome, Multiple: 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.Asperger Syndrome: 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)Mobius Syndrome: 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)Hepatorenal Syndrome: 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.Waardenburg Syndrome: 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.Systemic Inflammatory Response Syndrome: 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.Sleep Apnea Syndromes: 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.Adie Syndrome: 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)Follow-Up Studies: 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.Polyradiculoneuropathy: 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.Prospective Studies: 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.Ovarian Hyperstimulation Syndrome: 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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Prevalence: 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.Premenstrual Syndrome: 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.Miller Fisher Syndrome: 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)Capillary Leak Syndrome: 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.Korsakoff Syndrome: 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)Neurocutaneous Syndromes: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.Gitelman Syndrome: 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.Molecular Sequence Data: 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.Wolfram Syndrome: 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.Mutation, Missense: 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)Disease Models, Animal: 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.Acquired Hyperostosis Syndrome: 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.CREST 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.Wasting 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.Superior Vena Cava Syndrome: 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.SARS Virus: 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.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Munchausen Syndrome: 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.Myasthenic Syndromes, Congenital: 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)Consanguinity: The magnitude of INBREEDING in humans.Poland Syndrome: A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.Magnetic Resonance Imaging: 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.Biological Markers: 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.Alstrom Syndrome: 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.Rubinstein-Taybi Syndrome: 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).Sudden Infant Death: 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)Hypoplastic Left Heart Syndrome: 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.Romano-Ward Syndrome: 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.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Syndactyly: 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.Microcephaly: 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.)Rothmund-Thomson Syndrome: 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.Dwarfism: 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.Acute Disease: Disease having a short and relatively severe course.Burning Mouth Syndrome: 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.Electrocardiography: 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.Insulin Resistance: 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.Chromosome Deletion: Actual loss of portion of a chromosome.Hypertelorism: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.Lambert-Eaton Myasthenic Syndrome: 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)Zellweger Syndrome: 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.Tumor Lysis Syndrome: 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.Malignant Carcinoid Syndrome: 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)Karyotyping: Mapping of the KARYOTYPE of a cell.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Ectodermal Dysplasia: 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.Obesity: 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).WAGR Syndrome: 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.Smith-Magenis Syndrome: 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.Acrocephalosyndactylia: Congenital craniostenosis with syndactyly.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Sneddon Syndrome: 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, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.Kearns-Sayre Syndrome: 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)Cri-du-Chat Syndrome: 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-).Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Malabsorption Syndromes: General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.Cardio-Renal Syndrome: 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).Barth Syndrome: 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.Micrognathism: Abnormally small jaw.Craniosynostoses: 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.Gardner Syndrome: 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.Cogan Syndrome: A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.Bernard-Soulier Syndrome: A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.Euthyroid Sick Syndromes: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.CHARGE Syndrome: 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.Cohort Studies: 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.Methyl-CpG-Binding Protein 2: 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.Nerve Compression Syndromes: 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.Branchio-Oto-Renal Syndrome: 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)Sotos Syndrome: 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.Pigmentation DisordersGenetic Testing: 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.Staphylococcal Scalded Skin Syndrome: 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.RecQ Helicases: 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.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Chromosome Disorders: 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)Ellis-Van Creveld Syndrome: Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)Prognosis: 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.Brain: 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.Muscle Hypotonia: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.Mosaicism: 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.
Lockheed MQM-105 Aquila
Asymmetric crying facies
Cayler cardiofacial syndrome' is used. Cayler syndrome is part of 22q11.2 deletion syndrome. It was characterized by Cayler in ... Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of ... Cayler GG (1969). "Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association". ... "Vasomotor instability in neonates with chromosome 22q11 deletion syndrome". American Journal of Medical Genetics. 121A (3): 231 ...
C. Henry Kempe
Tardieu's syndrome. Also called Caffey-Kempe syndrome. A Good Knight for Children: C. Henry Kempe's Quest to Protect The Abused ... The Kempe Center ISPCAN C.H. Kempe et al., "The Battered Child Syndrome", 1962. The Kempe Center. Tardieu's syndrome. ... His research led to the publication of "The Battered Child Syndrome." Kempe, his colleagues and wife Ruth founded The Kempe ... Brandt F. Steele published the paper, "The Battered Child Syndrome." Publishing this paper led to the identification and ...
... are associated with a variant of Long QT syndrome called Timothy's syndrome and also with Brugada syndrome. Large-scale genetic ... Pagon RA, Bird TC, Dolan CR, Stephens K, Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R (1993). "Timothy Syndrome". ... GeneReviews/NIH/NCBI/UW entry on Brugada syndrome CACNA1C protein, human at the US National Library of Medicine Medical Subject ... "The genetic basis of Brugada syndrome: a mutation update". Human Mutation. 30 (9): 1256-66. doi:10.1002/humu.21066. PMID ...
Some of these syndromes include: certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast ... However, such germline mutations (which cause highly penetrant cancer syndromes) are the cause of only about 1 percent of ... German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ...
Primary Sjögren's syndrome is the combination of dry eyes and xerostomia. Secondary Sjögren's syndrome is identical to primary ... Sicca syndrome is not a specific condition, and there are varying definitions, but the term can describe oral and eye dryness ... Xerostomia, also known as dry mouth and dry mouth syndrome, is dryness in the mouth, which may be associated with a change in ... Xerostomia may be caused by autoimmune conditions which damage saliva producing cells . Sjögren's syndrome is one such disease ...
Kamen Rider Spirits
1896 in science
Rasmussen's Syndrome"". Boston - London - Oxford, Butterworth-Heinemann 1991 Andermann F, Beaumanoir A, Mira L, et al, eds. ... In 1972 and 1986 he described the syndromes lateron named after him together with his wife Eva (also a neurologist and ... Rasmussen's Syndrome. Boston - London - Oxford, Butterworth-Heinemann 1991 Andermann F, Rasmussen T, eds. Chronic Encephalitis ... Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology. In ...
Further studies led to VGKC antibodies being recognized in Morvan's syndrome and limbic encephalitis as well. It was for many ... The prognosis with treatment is generally good and much better than in the classic paraneoplastic syndromes. Patients, in one ... The classic presentation is with Morvan's syndrome, a disease with the features of neuromyotonia (i.e. peripheral ... Treatment of an associated tumour is implicated in all paraneoplastic neurologic syndromes. Case series have been published ...
Micro syndrome". American Journal of Diseases of Children (1960). 147 (12): 1309-12. doi:10.1001/archpedi.1993.02160360051017. ... Micro syndrome RAB3GAP2 - the 150-kD noncatalytic subunit of RAB3GAP complex Tbc domain GRCh38: Ensembl release 89: ... "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome". Nature Genetics. 37 (3): 221-3. doi:10.1038/ng1517 ... "A second family with Micro syndrome". Clinical Dysmorphology. 8 (4): 241-5. doi:10.1097/00019605-199910000-00002. PMID 10532171 ...
"CLOVES Syndrome". National Organization for Rare Diseases. Archived from the original on 2 April 2015. Retrieved 24 March 2015 ... It is believed that Friedberg wrote the first description of CLOVES syndrome. Friedberg wrote many essays on surgical and ... Alomari, AI; Thiex, R; Mulliken, JB (October 2010). "Hermann Friedberg's case report: an early description of CLOVES syndrome ...
Other DNA repair disorders include: Werner's syndrome: premature aging and retarded growth Bloom's syndrome: sunlight ... Humans born with inherited defects in DNA repair mechanisms (for example, Li-Fraumeni syndrome) have a higher cancer risk. The ... German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ...
Congenital heart defect
... including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac ... A number of genetic conditions are associated with heart defects including Down syndrome, Turner syndrome, and Marfan syndrome ... It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome ... Another T-box gene, TBX1, is involved in velo-cardio-facial syndrome DiGeorge syndrome, the most common deletion which has ...
Family Residences and Essential Enterprises
Klinefelter syndrome is an example of human polysomy X with the karyotype 47, XXY. X chromosome polysomies can be inherited ... Trisomy 21 is a form of Down syndrome that occurs when there is an extra copy of chromosome 21. The result is a genetic ... "Down Syndrome". Medline Plus. Retrieved 22 April 2014. Dhandha, S; Hogge, WA; Surti, U; McPherson, E (Dec 15, 2002). "Three ... and myelodysplastic syndromes (MDS). AML, MDS, or myeloproliferative disorder (MPD) with a high incidence of secondary diseases ...
In Sjögren's syndrome, anti-Ro and anti-La antibodies correlate with early onset, increased disease duration, parotid gland ... The presence of both antibodies is found in 30-60% of Sjögren's syndrome, anti-Ro antibodies alone are found in 50-70% of ... Anti-La antibodies are also found in SLE; however, Sjögren's syndrome is normally also present. Anti-Ro antibodies are also ... Anti-PM-Scl antibodies are found in up to 50% of polymyositis/systemic sclerosis (PM/SSc) overlap syndrome. Around 80% of ...
"Cri Du Chat Syndrome (Cat Cry Syndrome)". Encyclopedia of Special Education. Wiley. Retrieved 27 September 2013. "Klinefelter ... Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely ... One example of an X-linked trait is Coffin-Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This ... "Genetics of Marfan Syndrome". Medscape. WebMD LLC. Stafford, Kate; Mannor, Michael. "Mutations and Genetic Disease". Genetic ...
UW entry on ROR2-Related Robinow Syndrome GeneCard for ROR2 ROR2 Mutations Cause Brachydactyly Type B and Robinow Syndrome This ... 2008). "Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation". Am. J. Med. Genet. A. 146A ... It is involved in Robinow syndrome and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine ... In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by ...
DiGeorge syndrome is a genetic disorder caused by the deletion of a small section of chromosome 22. This results in a midline ... DiGeorge syndrome is the most common congenital cause of thymic aplasia in humans. In mice, the nude mouse strain are ... These syndromes are caused by defective hematopoietic progenitor cells which are the precursors of both B- and T cells. This ... It was thought to be a cause of sudden infant death syndrome but is now an obsolete term. Due to the large numbers of apoptotic ...
... benign fasciculation syndrome, cramp fasciculation syndrome, and neuromyotonia. Some doctors will only give the diagnosis of ... Sleep disorder is only one of a variety of clinical conditions observed in Morvan's syndrome cases ranging from confusion and ... "Isaac syndrome". OrphaNet. 2013. Retrieved 30 November 2015. National Institute of Neurological Disorders and Stroke. (2010). " ... Moreover, the generic use of the term peripheral nerve hyperexcitability syndromes to describe the aforementioned conditions is ...
Rainbow (South Korean band)
... in the transplanted kidney HELLP syndrome PANDAS syndrome Refsum disease Behcet syndrome Opsoclonus-Myoclonus Syndrome HIV- ... hemolytic uremic syndrome Granulomatosis with polyangiitis Lambert-Eaton syndrome Antiphospholipid antibody syndrome (APS or ... Guillain-Barré syndrome Miller Fisher syndrome Chronic inflammatory demyelinating polyneuropathy Goodpasture's syndrome ... such as Goodpasture's syndrome, myasthenia gravis, Guillain-Barré syndrome, lupus, and thrombotic thrombocytopenic purpura. ...
1978 in science
Russian scientist Victor Skumin first describes "cardioprosthetic psychopathological syndrome", later known as Skumin syndrome ... "Skumin syndrome". Genex (in Russian). Archived from the original on 2012-03-07. Retrieved 2012-01-06. ... Pitt, D.; Hopkins, I. (1978). "A syndrome of mental retardation, wide mouth and intermittent overbreathing". Australian ... The rare genetic disorder Pitt-Hopkins syndrome is first described. ...
... NLM Medline definition of stiff-person syndrome: A condition characterized by ... Pubmed Medline search on stiff-person syndrome. Support groups. Neurosupport. The aims of Neurosupport are to provide advice, ... Stiff-person Syndrome factsheet: NINDS, the National Institute of Neurological Disorders and Stroke (US site) ...
Burning Mouth Syndrome
... , a burning sensation anywhere in the oral cavity, is more common than you might think and can be caused ... It is known as burning mouth syndrome.. The pain of burning mouth syndrome (BMS) can be severe. Loss of or change in taste ... Burning mouth syndrome, a burning sensation anywhere in the oral cavity, is more common than you might think and can be caused ... Another common cause of burning mouth syndrome is esophageal reflux, where acid comes up into the mouth and burns the oral ...
Horner syndrome - Mayo Clinic
Tests to confirm Horner syndrome. Your doctor may be able to diagnose Horner syndrome based on your history and his or her ... In some cases the cause of Horner syndrome cannot be identified. This is known as idiopathic Horner syndrome. ... Horner syndrome is also known as Horner-Bernard syndrome or oculosympathetic palsy. ... Theres no specific treatment for Horner syndrome. Often, Horner syndrome disappears when an underlying medical condition is ...
International WAGR Syndrome Association Volunteer Opportunities - VolunteerMatch
Find International WAGR Syndrome Association volunteering opportunities at VolunteerMatch! ... International WAGR Syndrome Association International WAGR Syndrome Association Mission Statement. The mission of the IWSA is ... WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome ... The International WAGR Syndrome Association is a network of families, health care professionals, educators and others who care ...
Tourette Syndrome Treatments | CDC
Although there is no cure for Tourette Syndrome (TS), there are treatments to help manage the tics caused by TS. ... Although there is no cure for Tourette Syndrome (TS), there are treatments to help manage the tics caused by TS. Many people ... Tourette Syndrome Education & Trainingplus icon *Tourette Association Programs in Your State ... Other Concerns & Conditions of Tourette Syndromeplus icon *Diagnosing Obsessive-Compulsive Disorder (OCD) ...
Facts about Down Syndrome | CDC
Down syndrome is a condition in which a person has an extra chromosome. Learn more facts about Down Syndrome. ... Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome.2 Mosaic means mixture or combination. For ... What is Down Syndrome?. Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small "packages ... Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).2 This occurs ...
Learning About Turner Syndrome - National Human Genome Research Institute (NHGRI)
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 ...
Health Supervision for Children With Turner Syndrome | AMERICAN ACADEMY OF PEDIATRICS | Pediatrics
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. ...
Irritable bowel syndrome: diagnosis and management | The BMJ
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 ...
Hemolytic-uremic syndrome: MedlinePlus Medical Encyclopedia
Shiga-like toxin producing E coli hemolytic-uremic syndrome (STEC-HUS) is a disorder that most often occurs when an infection ... Hemolytic-uremic syndrome (HUS) often occurs after a gastrointestinal infection with E coli bacteria (Escherichia coli O157:H7 ... Shiga-like toxin producing E coli hemolytic-uremic syndrome (STEC-HUS) is a disorder that most often occurs when an infection ... Mele C, Noris M, Remuzzi G. Hemolytic uremic syndrome. In: Ronco C, Bellomo R, Kellum JA, Ricci Z, eds. Critical Care ...
Turner syndrome - NHS
Turner syndrome is a genetic disorder that only affects females. It causes a wide range of symptoms and some distinctive ... Read more about the genetic cause of Turner syndrome.. Characteristics of Turner syndrome. Females with Turner syndrome often ... Treating Turner syndrome. Theres no cure for Turner syndrome but many of the associated symptoms can be treated. ... Read more about the symptoms of Turner syndrome and how Turner syndrome is diagnosed. ...
Carpal Tunnel Syndrome Treatment, Symptoms, Causes & Tests
Carpal tunnel syndrome is a painful condition caused by nerve compression in the wrist. ... Learn about carpal tunnel syndrome symptoms (numbness in fingers, toes), causes (pregnancy, diabetes, repetitive motions), ... Carpal Tunnel Syndrome - Diagnosis Describe the exams that led to a diagnosis of carpal tunnel syndrome. Did you think it was ... home/chronic pain health center/chronic pain a-z list/carpal tunnel syndrome center /carpal tunnel syndrome article ...
Mcleod Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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. ...
Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice | SpringerLink
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 ...
British Society of Gastroenterology guidelines for the management of the irritable bowel syndrome | Gut
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. ...
X-Linked Opitz G/bbb Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
... 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 - GeneReviews® - NCBI Bookshelf
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 ...
Serotonin syndrome - Diagnosis and treatment - Mayo Clinic
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 - Find The Best Bang For Your Buck
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 ...
Frontiers | Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome...
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: ...
Young's syndrome - Wikipedia
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 ...
Oculocerebrorenal syndrome - Wikipedia
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 ...
Down Syndrome Is Normal
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 ...
Electromyogram - Sleep apnea syndrome
Tourette Syndrome | MedlinePlus
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 på Steam
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 ...
Griscelli syndrome | SpringerLink
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 ...
Fragile X syndrome
... (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 ...
DisorderDiseaseAffectsTreatmentConditionSystemicTypicallySignsCommonTourette SyndromeAsperger's SyndromeDisordersSevereBurning Mouth SySymptomsGeneticClinicallyAutosomal recessiveAMERICAN ACADEMY OFPathophysiologyPregnancyPathologyMetabolic syndromeDysfunctionShort statureAlagille SyndromeSuddenTrisomy 21Shaken Baby SynPrevalencePeopleMutationsSerotonin syndromeObesityDisordersPrenatalAbdominalSymptomTreatmentsPathogenesisTurner SyndromeSkeletalDiagnostic criteriaDementia
- Systemic capillary leak syndrome (SCLS) is characterized by recurrent hypovolemic shock attributable to increased systemic capillary leakage. (go.jp)
- We report on a 75-year-old woman who presented with recurrent episodes of hypotension, anasarca, renal failure, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (SCLS). (kuleuven.be)
- Another common cause of burning mouth syndrome is esophageal reflux, where acid comes up into the mouth and burns the oral cavity. (newsmax.com)
- Burning mouth syndrome, a burning sensation anywhere in the oral cavity, is more common than you might think and can be caused by nutritional deficiencies, hormonal imbalances, allergies, or esophageal reflux, according to Dr. David Brownstein. (newsmax.com)
- All genders can have Asperger syndrome, although it is more common in males. (wikipedia.org)
- 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)
- Symptoms of carpal tunnel syndrome include numbness and tingling of the hand. (medicinenet.com)
- Diagnosis of carpal tunnel syndrome is suspected based on symptoms, supported by physical examination signs, and confirmed by nerve conduction testing. (medicinenet.com)
- Treatment of carpal tunnel syndrome depends on the severity of symptoms and the underlying cause. (medicinenet.com)
- What are carpal tunnel syndrome symptoms ? (medicinenet.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)
- 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)
- Korsakoff syndrome is a clinical diagnosis representing a physician's best judgment about the cause of a person's symptoms. (alz.org)
- The syndrome may sometimes be hard to identify because it may be masked by symptoms of other conditions common among those who misuse alcohol, including intoxication or withdrawal, infection, or head injury . (alz.org)
- 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 neonatal abstinence syndrome scoring system measures symptoms and severity. (familydoctor.org)
- 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)
- Because these heart conditions may not produce any obvious symptoms, those with Marfan's syndrome must have regular checkups by a cardiologist to monitor the effects of treatment and to detect possible complications. (healthcentral.com)
- A syndrome is a set of medical signs and symptoms that are correlated with each other and, often, with a particular disease or disorder. (wikipedia.org)
- For example, Down syndrome, Wolf-Hirschhorn syndrome, and Andersen 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)
- 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, and facial nerve palsy. (wikipedia.org)
- Postcholecystectomy syndrome describes the presence of abdominal symptoms after surgical removal of the gallbladder (cholecystectomy), 2 years after the surgery. (wikipedia.org)
- Symptoms of postcholecystectomy syndrome may include: Dyspepsia, nausea, and vomiting. (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)
- 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)
- Researchers have identified several genetic variations that may increase susceptibility to Korsakoff syndrome. (alz.org)
- 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)
- 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)
- Recently a genetic change has been identified in Sturge-Weber syndrome. (cincinnatichildrens.org)
- The same mutation has also been found in capillary malformations that are not associated with the syndrome, so genetic testing cannot be used to diagnose Sturge-Weber. (cincinnatichildrens.org)
- In the field of medical genetics, the term "syndrome" is traditionally only used when the underlying genetic cause is known. (wikipedia.org)
- While many syndromes may be identified clinically, this strategy has resulted in a significant delay in the diagnosis of Usher syndrome. (asha.org)
- 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)
- Because it is autosomal recessive, all forms of Usher syndrome are inherited from not one but both parents. (asha.org)
- Chédiak-Higashi syndrome is inherited in an autosomal recessive manner (meaning that a child must inherit a copy of the gene responsible for the disease from both parents). (britannica.com)
AMERICAN ACADEMY OF1
- 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)
- Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. (cdc.gov)
- There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. (cdc.gov)
- A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. (cdc.gov)
- Turner syndrome may be suspected in pregnancy during an ultrasound test. (genome.gov)
- Common conditions that can lead to carpal tunnel syndrome include obesity , pregnancy , hypothyroidism , arthritis , diabetes , and trauma . (medicinenet.com)
- Sometimes parents find out their baby has Down's syndrome during pregnancy because of screening tests. (www.nhs.uk)
- There's a small chance of having a child with Down's syndrome with any pregnancy, but the likelihood increases with the age of the mother. (www.nhs.uk)
- There's no evidence that anything done before or during pregnancy increases or decreases the chance of having a child with Down's syndrome. (www.nhs.uk)
- 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)
- Is there a test done, in early pregnancy , that will determine of the baby will have Marfan's syndrome? (healthcentral.com)
- What is metabolic syndrome? (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 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)
- 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)
- 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)
- 8. Which of the following syndromes corresponds to: hematuria, glomerulonephritis and pulmonary dysfunction? (testprepreview.com)
- The pain associated with postcholecystectomy syndrome is usually ascribed to either sphincter of Oddi dysfunction or to post-surgical adhesions. (wikipedia.org)
- Reduced bile flow is one finding that indicates Alagille syndrome. (cincinnatichildrens.org)
- There is no cure for Alagille syndrome. (cincinnatichildrens.org)
- A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. (nih.gov)
- Gene mutations cause Alagille syndrome. (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)
- sudden infant death syndrome (SIDS) or crib death, sudden, unexpected, and unexplained death of an apparently healthy infant under one year of age (usually between two weeks and eight months old). (infoplease.com)
- Rupture of the aorta has been a cause of sudden death in some people with unsuspected Marfan's syndrome so rigorous physical exertion is discouraged. (healthcentral.com)
- Down syndrome is also referred to as Trisomy 21. (cdc.gov)
- About 95% of people with Down syndrome have Trisomy 21. (cdc.gov)
- 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)
- Thus, Trisomy 21 is commonly known as Down syndrome. (wikipedia.org)
Shaken Baby Syn3
- 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)
- 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)
- Even though people with Down syndrome might act and look similar, each person has different abilities. (cdc.gov)
- People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children. (cdc.gov)
- People with carpal tunnel syndrome initially feel numbness and tingling of the hand in the distribution of the median nerve (the thumb, index, middle, and thumb side of the ring fingers). (medicinenet.com)
- 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)
- 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)
- Scientists don't know exactly how many people have Korsakoff syndrome. (alz.org)
- Many people with Down syndrome share a distinct appearance. (familydoctor.org)
- In recent years, it's become clear that a lot of people with Behcet's syndrome are troubled by disabling headaches. (netdoctor.co.uk)
- 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)
- Most people who have obesity hypoventilation syndrome also have sleep apnea . (nih.gov)
- 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)
- It is estimated that about one in 10,000 people has Marfan's syndrome. (healthcentral.com)
- There are no reliable statistics showing the number of people previously diagnosed with Asperger's syndrome. (babycenter.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)
- If you have been diagnosed with obesity, your doctor may screen you for obesity hypoventilation syndrome by measuring your blood oxygen or carbon dioxide levels. (nih.gov)
- If you have obesity hypoventilation syndrome, you may feel sluggish or sleepy during the day, have headaches, or feel out of breath. (nih.gov)
- If you are diagnosed with obesity hypoventilation syndrome, your doctor may recommend healthy lifestyle changes , such as aiming for a healthy weight and being physically active . (nih.gov)
- Visit Obesity Hypoventilation Syndrome for more information about this topic. (nih.gov)
- 2 Risk factors for the syndrome include older age, obesity, male sex, iliofemoral (proximal) DVT, recurrent ipsilateral DVT, previous or primary venous insufficiency, and elevated d -dimer levels after withdrawal of anticoagulant agents. (cmaj.ca)
- 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)
- 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)
- 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)
- What is Turner syndrome? (genome.gov)
- Girls who have Turner syndrome are shorter than average. (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)
- 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)
- 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)
- 8 - 12 As a result, the nonverbal IQ in persons with Turner syndrome tends to be lower than the verbal IQ. (aappublications.org)
- Welcome to the Turner Syndrome (TS) Clinic at MassGeneral Hospital for Children. (massgeneral.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)
- 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)