Camurati engelmann syndrome. Medical search

A characteristic symptom complex.

A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)

A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.

Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.

A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.

An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.

A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.

An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)

A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.

Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.

A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)

The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).

A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)

A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)

An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.

A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.

A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.

A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.

An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.

A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.

A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.

A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.

A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.

Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.

A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.

Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.

An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.

A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.

A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.

A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.

The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.

A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.

Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.

A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).

A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.

An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.

Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.

A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.

A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).

Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.

An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)

Symptom complex due to ACTH production by non-pituitary neoplasms.

A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.

An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.

A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.

A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)

A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.

Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.

An infant during the first month after birth.

A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.

An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.

A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.

A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)

Mandibulofacial dysostosis with congenital eyelid dermoids.

A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.

A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)

Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).

A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.

A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)

Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.

Biochemical identification of mutational changes in a nucleotide sequence.

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.

Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.

A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.

Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.

A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.

An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.

Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.

Congenital absence of or defects in structures of the eye; may also be hereditary.

Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.

A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)

A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)

Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.

Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.

A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)

Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.

Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.

Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.

A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.

Elements of limited time intervals, contributing to particular results or situations.

The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.

A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.

A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)

A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.

An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.

An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.

Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.

A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.

A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.

A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.

A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.

A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)

The magnitude of INBREEDING in humans.

A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.

Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.

Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)

A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.

A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.

Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.

A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.

Disease having a short and relatively severe course.

A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders.

Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.

Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.

Actual loss of portion of a chromosome.

Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia.

A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)

Mapping of the KARYOTYPE of a cell.

Genes that influence the PHENOTYPE only in the homozygous state.

An individual having different alleles at one or more loci regarding a specific character.

A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.

A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).

A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

Congenital craniostenosis with syndactyly.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)

Tomography using x-ray transmission and a computer algorithm to reconstruct the image.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.

A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).

Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.

General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.

Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).

Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.

Abnormally small jaw.

Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.

A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.

A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.

A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.

Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased.

The possession of a third chromosome of any one type in an otherwise diploid cell.

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.

Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.

A DNA-binding protein that interacts with methylated CPG ISLANDS. It plays a role in repressing GENETIC TRANSCRIPTION and is frequently mutated in RETT SYNDROME.

Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.

An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)

Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

A disease of infants due to group 2 phage type 17 staphylococci that produce an epidermolytic exotoxin. Superficial fine vesicles and bullae form and rupture easily, resulting in loss of large sheets of epidermis.

A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.

Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.

The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.

Congenital structural deformities of the upper and lower extremities collectively or unspecified.

Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. (1/24)

Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base. The gene for CED, or its chromosomal localization, has not yet been identified. We performed a genomewide linkage analysis of two unrelated Japanese families with CED, in which a total of 27 members were available for this study; 16 of them were affected with the disease. Two-point linkage analysis revealed a maximum LOD score of 7.41 (recombination fraction.00; penetrance 1.00) for the D19S918 microsatellite marker locus. Haplotype analysis revealed that all the affected individuals shared a common haplotype observed, in each family, between D19S881 and D19S606, at chromosome 19q13.1-q13.3. These findings, together with a genetic distance among the marker loci, indicate that the CED locus can be assigned to a 15.1-cM segment between D19S881 and D19S606. (+info)

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. (2/24)

Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The underlying cause of this condition remains unknown. In order to localise the disease causing gene, we performed a linkage study in a large Jewish-Iraqi family with 18 affected subjects in four generations. A genome wide search with highly polymorphic markers showed linkage with several markers at chromosome 19q13. A maximum lod score of 4.9 (theta=0) was obtained with markers D19S425 (58.7 cM, 19q13.1) and D19S900 (67.1 cM, 19q13. 2). The disease causing gene is located in a candidate region of approximately 32 cM, flanked by markers D19S868 (55.9 cM, 19q13.1) and D19S571 (87.7 cM, 19q13.4). (+info)

Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. (3/24)

Transforming growth factor (TGF)-beta1 is secreted as a latent form, which consists of its mature form and a latency-associated peptide (beta1-LAP) in either the presence or the absence of additional latent TGF-beta1-binding protein. We recently reported that three different missense mutations (R218H, R218C, and C225R) of beta1-LAP cause the Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by hyperosteosis and sclerosis of the diaphysis of the long bones. Pulse-chase experiments using fibroblasts from CED patients and expression experiments of the mutant genes in an insect cell system suggest that these mutations disrupt the association of beta1-LAP and TGF-beta1 and the subsequent release of the mature TGF-beta1. Furthermore, the cell growth of fibroblasts from a CED patient and mutant gene-transfected fibroblasts was suppressed via TGF-beta1. The growth suppression observed was attenuated by neutralizing antibody to TGF-beta1 or by treatment of dexamethasone. On the other hand, the proliferation of human osteoblastic MG-63 cells was accelerated by coculture with CED fibroblasts. These data suggest that the domain-specific mutations of beta1-LAP result in a more facile activation of TGF-beta1, thus causing CED. (+info)

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. (4/24)

Transforming growth factor-beta1 (TGF-beta1) is secreted as a latent precursor, consisting of a homodimer of the latency-associated peptide and the mature peptide. TGFbeta-1 can only exert its many functions after going from this latent to an active state, in which the binding site of the mature peptide for its receptor is no longer shielded by the latency-associated peptide. We and others reported that mutations in TGFB1 cause Camurati-Engelmann disease, a rare bone disorder. Until now, seven mutations have been published. In this study, we investigate the effect of the LLL12-13ins, Y81H, R218C, H222D, and C225R mutations on the functioning of TGF-beta1 in vitro. A luciferase reporter assay specific for TGF-beta-induced transcriptional response with wild type and mutant TGF-beta1 constructs showed a positive effect of all mutations on TGF-beta1 activity. By way of enzyme-linked immunosorbent assay, we found that in the R218C, H222D, and C225R mutant constructs, this effect is caused by an increase in active TGF-beta1 in the medium of transfected cells. The LLL12-13ins and Y81H mutations on the contrary have a profound effect on secretion; a decreased amount of TGF-beta1 is secreted, but the increased luciferase activity shows that the intracellular accumulation of (aberrant) TGF-beta1 can initiate an enhanced transcriptional response, suggesting the existence of an alternative signaling pathway. Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease. (+info)

Camurati-Engelmann's disease: a case report. (5/24)

Camurati-Engelmann's disease is a rare condition worldwide. No cases have been documented in Uganda. A 26 year old female presented with a history of grinding pain in the limbs for over 20 years. Strong painkillers would temporally relieve the pain. She had an asthenic stature with generalised reduction in muscle bulk. Plain x-rays revealed the characteristic symmetrical thickening and sclerosis of the diaphyses of the appendicular skeleton and skull base, which is pathognomonic of Camurati-Engelmann's disease. Involvement of the metaphyses of these long bones as well as the metacarpal bones makes this an unusual case. (+info)

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). (6/24)

Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. By linkage analysis of a large Japanese family with GDD, we previously mapped the GDD locus to chromosome 11p14.3-15.1. In the critical region determined by recombination mapping, we identified a novel gene (GDD1) that encodes a 913-amino-acid protein containing eight putative transmembrane-spanning domains. Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. Cellular localization to the endoplasmic reticulum suggests a role for GDD1 in the regulation of intracellular calcium homeostasis. (+info)

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. (7/24)

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding transforming growth factor (TGF) beta1. Pain in the extremities was the most common clinical symptom, present in 68% of the patients. A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement. A large percentage of the patients also showed involvement of the skull (54%) and pelvis (63%). The review provides an overview of possible treatments, diagnostic guidelines, and considerations for prenatal testing. The detailed description of such a large set of CED patients will be of value in establishing the correct diagnosis, genetic counselling, and treatment. (+info)

Rare osteodysplasia of the temporal bone. (8/24)

Temporal bone osteodysplasia can produce many different symptoms, such as involvement restricted to the temporal bone or impairment of other bones. We consider, in this study two entities that are rare osteodysplasia cases, which are osteopetrosis and Camurati-Engelmann disease, the latter being extremely rare. We present two cases of benign form of osteopetrosis (Albers-Schulenburg's disease), a patient of 11 years old and another one of 48 years old, both male, and a patient of 28 years old, female, with Camurati-Engelmann's disease. The facial palsy was a manifestation in two of the patients. We discuss some aspects about the clinical manifestations, radiological findings, as well as differential diagnostic and therapy in view of the complications of the diseases. (+info)

Born in Warwick, Rhode Island, he began using a wheelchair at the age of 13 due to a bone disease, Camurati-Engelmann syndrome ...

https://en.wikipedia.org/wiki/John_Belluso

... therapeutic brain stimulation Camurati-Engelmann disease, also called "Camurati Engelmann syndrome" (CES) Carboxylesterase, an ... of sequences of code units to sequences of bytes ICAO Code designator for China Eastern Airlines Cauda equina syndrome, a ...

https://en.wikipedia.org/wiki/CES

... syndrome Apert syndrome Beals syndrome Bechterew's Bruck syndrome Camurati-Engelmann disease Catel-Manzke syndrome Cole ... syndrome Conradi-Hünermann syndrome Currarino syndrome Ehlers-Danlos syndrome Eiken syndrome Ellis-van Creveld syndrome ... syndrome Marshall-Smith syndrome McCune-Albright syndrome Melnick-Needles syndrome Morton's toe Ollier disease Rett syndrome ... Rubinstein-Taybi syndrome Scheuermann's disease Schwartz-Jampel syndrome Silver-Russell syndrome Teunissen-Cremers syndrome ...

https://en.wikipedia.org/wiki/List_of_orthopaedic_eponyms

... may refer to: Camurati-Engelmann disease, a rare genetic syndrome The Canadian Eskimo Dog Capacitance Electronic Disc, a ...

https://en.wikipedia.org/wiki/CED

Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansen's metaphyseal chondrodysplasia. *Schmid metaphyseal ... Ellis-van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, ... Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.[5] ... Ellis-van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see 'Nomenclature' section ...

https://en.wikipedia.org/wiki/Ellis–van_Creveld_syndrome

... used a wheel chair from the age of 13 because of the Camurati-Engelmann syndrome. He died on February 10, 2006, at the age of ... Camurati-Engelmann disease on Genetic Home Reference GeneReviews/NCBI/NIH/UW entry on Camurati-Engelmann Disease Wallace, ... Camurati‐Engelmann Disease. Acta radiologica, 44(4), 430-434. Mason, J., & Slee, I. (1968). Anaesthesia in Engelmann's disease ... Type 2 Camurati-Engelmann Disease is still speculative, with no distinct evidence to credit its existence. There are many ...

https://en.wikipedia.org/wiki/Camurati–Engelmann_disease

... see Camurati-Engelmann disease.. Angelman syndrome or Angelman's syndrome[1][2] (AS) is a genetic disorder that mainly affects ... Angelman syndrome in the McGraw-Hill Dictionary of Scientific & Technical Terms *^ a b Angelman syndrome in the American ... Facts about Angelman syndrome (PDF) Archived May 27, 2013, at the Wayback Machine. Anonymous. Angelman syndrome Foundation (US ... 1995). "Angelman syndrome: consensus for diagnostic criteria. Angelman syndrome Foundation". Am. J. Med. Genet. 56 (2): 237-8. ...

https://en.m.wikipedia.org/wiki/Angelman_syndrome

... syndrome G-alajara type 2 Camptodactyly taurinuria Camptodactyly vertebral fusion Campylobacteriosis Camurati-Engelmann disease ... CCA syndrome Ccge syndrome CCHS CDG syndrome type 1A CDG syndrome type 1B CDG syndrome type 1C CDG syndrome type 2 CDG syndrome ... syndrome Coffin-Siris syndrome COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Gibson syndrome Cohen-Hayden syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome Codas syndrome Codesette syndrome Coeliac ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

Camurati-Engelmann disease) SOST-related sclerosing bone dysplasias The only effective line of treatment for malignant ... Buschke-Ollendorff syndrome) Osteopathia striata with cranial sclerosis Mixed sclerosing bone dysplasia Progressive diaphyseal ... with renal tubular acidosis Infantile osteopetrosis with immunodeficiency IO with leukocyte adhesion deficiency syndrome (LAD- ...

https://en.wikipedia.org/wiki/Malignant_infantile_osteopetrosis

Camurati-Engelmann disease) SOST-related sclerosing bone dysplasias Sclerosis of the bones of the thoracic spine due to ... Buschke-Ollendorff syndrome) Osteopathia striata with cranial sclerosis Mixed sclerosing bone dysplasia Progressive diaphyseal ... "Imaging findings in 22 cases of Schnitzler syndrome: characteristic para-articular osteosclerosis, and the "hot knees" sign ... Osteosclerosing types of chronic osteomyelitis Hypervitaminosis D hypoparathyroidism Schnitzler syndrome Skeletal fluorosis ...

https://en.wikipedia.org/wiki/Osteosclerosis

Camurati-Engelmann disease), SOST-related sclerosing skeletal dysplasias. Besides, the differential diagnosis includes acquired ... and carpal tunnel syndrome. About 40% of patients will experience recurrent fractures of their bones. 10% of patients will have ... Buschke-Ollendorff syndrome), osteopathia striata with cranial sclerosis, mixed sclerosing skeletal dysplasias, progressive ... infantile osteopetrosis with leukocyte adhesion deficiency syndrome (LAD-III), pyknodysostosis (osteopetrosis acro-osteolytica ...

https://en.wikipedia.org/wiki/Osteopetrosis

Jacques Calvé Camurati-Engelmann disease (a.k.a. Camurati-Engelmann syndrome, Engelmann disease, Engelmann syndrome) - M. ... Hakaru Hashimoto Havisham syndrome (a.k.a. Diogenes syndrome, Miss Havisham syndrome, and Plyushkin syndrome) - Miss Havisham, ... Havisham syndrome, Miss Havisham syndrome, Plyushkin syndrome)- Diogenes of Sinope (the particular usage, Diogenes syndrome, is ... syndrome - Moritz Simmonds Sipple's syndrome - John H. Sipple Sjögren's syndrome - Henrik Sjögren Sjögren-Larsson syndrome - ...

https://en.wikipedia.org/wiki/List_of_eponymous_diseases

SOX9 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; 208250; PRG4 Camurati-Engelmann disease; 131300; TGFB1 Canavan ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

Camurati-Engelmann disease - Cancellous bone - Cartilage - Cartilaginous joint - Catel-Manzke syndrome - Cenani-Lenz ... Ehlers-Danlos syndrome - Eiken syndrome - Elbow examination - Elbow extension test - Ellis-van Creveld syndrome - Enchondroma ... Marfan syndrome - Marie-Strümpell disease - Marshall syndrome - Marshall-Smith syndrome - Martin-Gruber Anastomosis - Mayfield ... Antley-Bixler syndrome - Apert syndrome - Apley grind test - Apley scratch test - Apprehension test - Arachnodactyly - Arm ...

https://en.wikipedia.org/wiki/Index_of_trauma_and_orthopaedics_articles

Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease ... Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansen's metaphyseal chondrodysplasia. *Schmid metaphyseal ... Brittle bone disease,[1] Lobstein syndrome,[2] fragilitas ossium,[1] Vrolik disease,[1] osteopsathyrosis, Porak disease, ... Other differential diagnoses include rickets, osteomalacia, and other rare skeletal syndromes. Treatment[edit]. There is no ...

https://en.wikipedia.org/wiki/Osteogenesis_imperfecta

FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansen's metaphyseal chondrodysplasia. *Schmid metaphyseal ... AMHR2 (Persistent Müllerian duct syndrome II). *TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia ... and Crouzon syndrome with acanthosis nigricans". Endocr. Rev. 21 (1): 23-39. doi:10.1210/er.21.1.23. PMID 10696568.. ...

https://en.wikipedia.org/wiki/Thanatophoric_dysplasia

Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansen's metaphyseal chondrodysplasia. *Schmid metaphyseal ... Conradi-Hünermann syndrome. Other dwarfism. *Fibrochondrogenesis. *Short rib - polydactyly syndrome *Majewski's polydactyly ...

https://en.wikipedia.org/wiki/Osteochondroprogenitor_cell

Also, Camurati-Engelmann disease has no sign of defective haematopoiesis, but Ghosal hematodiaphyseal dysplasia is associated ... March 2008). "Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)". Nature Genetics. 40 (3 ... Although this disease is like Camurati-Engelmann disease where there is also diaphyseal dysplasia, there are, however, reasons ... Ghosal syndrome)". Nature Genetics. 40 (3): 284-286. doi:10.1038/ng.2007.66. ISSN 1546-1718. PMID 18264100. Jeevan A, Doyard M ...

https://en.wikipedia.org/wiki/Ghosal_hematodiaphyseal_dysplasia

Camurati-Engelmann Syndrome. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several ... Camurati-Engelmann Syndrome. SINDROME DE CAMURATIENGELMANN 3.1 - YouTube. El pasado mes de Febrero se realizo la primera ... Camurati-Engelmann disease (Medical Condition .... Symptoms, risk factors and treatments of Camurati-Engelmann disease (Medical ... I have Camurati-Engelmanns disease and have had this procedure done many times up .... youtube.com - Mon, 25 Apr 2011 16:58. ...

https://lookfordiagnosis.com/videos.php?term=Camurati-Engelmann+Syndrome&lang=1

... thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann ... Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, ... medlineplus.gov/genetics/condition/camurati-engelmann-disease/ Camurati-Engelmann disease. ... Camurati-Engelmann syndrome. *CED. *Diaphyseal dysplasia. *Diaphyseal hyperostosis. *Diaphyseal osteosclerosis. *Engelmann ...

https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/

Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansens metaphyseal chondrodysplasia. *Schmid metaphyseal ... Ellis-van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, ... Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.[5] ... Ellis-van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see Nomenclature section ...

https://en.wikipedia.org/wiki/Ellis%E2%80%93van_Creveld_syndrome

... see Camurati-Engelmann disease.. Angelman syndrome or Angelmans syndrome[1][2] (AS) is a genetic disorder that mainly affects ... Angelman syndrome in the McGraw-Hill Dictionary of Scientific & Technical Terms *^ a b Angelman syndrome in the American ... Facts about Angelman syndrome (PDF) Archived May 27, 2013, at the Wayback Machine. Anonymous. Angelman syndrome Foundation (US ... 1995). "Angelman syndrome: consensus for diagnostic criteria. Angelman syndrome Foundation". Am. J. Med. Genet. 56 (2): 237-8. ...

https://en.m.wikipedia.org/wiki/Angelman_syndrome

The Effects of Vitamin D on Transforming Growth Factor-beta1 in Polycystic Ovary Syndrome. *Polycystic Ovary Syndrome ... 57 Studies found for: Camurati-Engelmann disease [DISEASE] OR NCT00001754 [ID-NUMBER] ... Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome. *Marfan Syndrome ... The concentrations EGF, TGF-β1, TGF-β2 and fibronectin in 20% ASE of SJS patients with dry eye syndrome and of non-autoimmune ...

https://clinicaltrials.gov/ct2/results?term=%22Camurati-Engelmann+disease%22+%5BDISEASE%5D+OR+NCT00001754+%5BID-NUMBER%5D&show_rss=Y&sel_rss=new14

Keywords : Ribbing disease, Camurati-Engelmann syndrome, Multiple diaphyseal sclerosis, Hyperostosis, Bisphosphonate, ... previously described in Camurati-Engelmann syndrome) and three had commonly found TGFβ1 polymorphisms. Intravenous ...

https://www.em-consulte.com/en/article/854784

Born in Warwick, Rhode Island, he began using a wheelchair at the age of 13 due to a bone disease, Camurati-Engelmann syndrome ...

https://en.wikipedia.org/wiki/John_Belluso

The Effects of Vitamin D on Angiogenic Factors in Women With Polycystic Ovary Syndrome. *Polycystic Ovary Syndrome ... Camurati-Engelmann disease [DISEASE] OR NCT00001754 [ID-NUMBER] AND Melanoma (61 records) ... 61 Studies found for: Camurati-Engelmann disease [DISEASE] OR NCT00001754 [ID-NUMBER] AND Melanoma ... Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome. *Marfan Syndrome ...

https://clinicaltrials.gov/ct2/results?term=%22Camurati-Engelmann+disease%22+%5BDISEASE%5D+OR+NCT00001754+%5BID-NUMBER%5D+AND+Melanoma

Defects in the gene that encodes TGF-beta1 are the cause of CAMURATI-ENGELMANN SYNDROME. ... Defects in the gene that encodes TGF-beta1 are the cause of CAMURATI-ENGELMANN SYNDROME. ...

http://www.curehunter.com/public/keywordSummaryD053773-Transforming-Growth-Factor-beta1-TGF-beta-1.do

... used a wheel chair from the age of 13 because of the Camurati-Engelmann syndrome. He died on February 10, 2006, at the age of ... Camurati-Engelmann disease on Genetic Home Reference GeneReviews/NCBI/NIH/UW entry on Camurati-Engelmann Disease Wallace, ... Camurati‐Engelmann Disease. Acta radiologica, 44(4), 430-434. Mason, J., & Slee, I. (1968). Anaesthesia in Engelmanns disease ... Type 2 Camurati-Engelmann Disease is still speculative, with no distinct evidence to credit its existence. There are many ...

https://en.wikipedia.org/wiki/Camurati%E2%80%93Engelmann_disease

Engelmann Q78.3. (-Camurati). ICD-10-CM Diagnosis Code Q78.3. Progressive diaphyseal dysplasia. 2016 2017 2018 Billable/ ... Postconcussional syndrome. 2016 2017 2018 Billable/Specific Code Applicable To*Postcontusional syndrome (encephalopathy) ... Guillain-Barre syndrome. 2016 2017 2018 Billable/Specific Code Applicable To*Acute (post-)infective polyneuritis ... Guillain-Barre syndrome. 2016 2017 2018 Billable/Specific Code Applicable To*Acute (post-)infective polyneuritis ...

http://www.icd10data.com/ICD10CM/Index/E

Activating mutations in TGFB1, TGFBR1, and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function ... In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, ...

http://jem.rupress.org/content/205/7/1543.abstract

Camurati-Engelmann disease presenting as "juvenile otosclerosis." Int J Pediatr Otorhinolaryngol 1996;37:129-141. ... Camurati-Engelmann disease, also called progressive diaphyseal dysplasia, is an autosomal dominant disease with variable ... and Camurati-Engelmann disease.. OI and otosclerosis share many similar histologic and radiographic features, and their ... Osteogenesis Imperfecta of the Temporal Bone: CT and MR Imaging in Van der Hoeve-de Kleyn Syndrome. Hatem Alkadhi, Diana ...

http://www.ajnr.org/content/25/6/1106.full

Full text: Available Index: WPRIM (Western Pacific) Main subject: Camurati-Engelmann Syndrome Language: English Journal: ... Full text: Available Index: WPRIM (Western Pacific) Main subject: Camurati-Engelmann Syndrome Language: English Journal: ... Regarding Camurati-Engelmann Disease: In Reply Alisher-J YULDASHEV; Chang-Ho SHIN; Yong-Sung KIM; Woo-Young JANG; Moon-Seok ...

https://search.bvsalud.org/gim/resource/en/wpr-713317

Camurati-Engelmann Syndrome: A musculoskeletal syndrome leading to enhanced bone formation, hyperostosis and sclerosis of the ... Kenny Syndrome; Kenny-Linarelli Syndrome; Tubular Stenosis-Hypocalcemia-Convulsions-Dwarfism Syndrome; Tubular Stenosis- ... "Kenny-Caffey Syndrome." Syndromes: Rapid Recognition and Perioperative Implications Bissonnette B, Luginbuehl I, Marciniak B, ... Bruno Bissonnette, et al.eds. Syndromes: Rapid Recognition and Perioperative Implications New York, NY: McGraw-Hill; 2006. http ...

https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517780

Body Mass Index , Camurati-Engelmann Syndrome , Child , Diagnosis , Diagnosis, Differential , Diaphyses , Emaciation , ... Regarding Camurati-Engelmann Disease: In Reply Alisher-J YULDASHEV; Chang-Ho SHIN; Yong-Sung KIM; Woo-Young JANG; Moon-Seok ... Orthopedic Manifestations of Type I Camurati-Engelmann Disease Alisher-J YULDASHEV; Chang-Ho SHIN; Yong-Sung KIM; Woo-Young ... BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation ...

https://search.bvsalud.org/gim/?lang=en&q=au:Chang-Ho+SHIN

CAMFAK syndrome ... cataract*Camurati-Engelmann Disease ... cataract*Cardiomyopathy cataract hip spine disease ... cataract* ... Goldstein-Hutt syndrome ... cataract. H. *Hajdu-Cheney Syndrome ... cataract*HARD syndrome ... cataract*HARD syndrome ( ... Spondylo-ocular syndrome ... cataract*Stickler Syndrome ... cataract*Stickler Syndrome, type I ... cataract*Stickler Syndrome, ... Johnson-Hall-Krous syndrome ... cataract*Joubert Syndrome 9 ... cataract. K. *Kahrizi Syndrome ... cataract*Karandikar-Maria- ...

https://www.rightdiagnosis.com/sym/vision_disturbances.htm

TGFB1 mutations in humans have been found to cause the Camurati-Engelmann-syndrome [46], which is a progressive diaphyseal ... Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet. 2000;26:19-20. [PubMed] ... Approximately 20-50% of all orofacial clefts are associated with one of more than 400 described syndromes [2]. These syndromes ... Syndromes of the head and neck. Oxford: Oxford University Press; 2001. 3. Wyszynski DF. Cleft lip and palate: from origin to ...

http://pubmedcentralcanada.ca/pmcc/articles/PMC2752353/?lang=en-ca

Activating mutations in TGFB1, TGFBR1, and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function ... Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. Al Khatib S, ... In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, ...

https://pubmed.ncbi.nlm.nih.gov/18591412/

No patient exhibited acute pain syndrome, hepatosplenomegaly, cranial nerve impairment, mental retardation, or a change to ... Camurati-Engelmann disease (CED, OMIM: 131300), also termed Engelmann disease or progressive diaphyseal dysplasia (PDD), is a ... Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor ... Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. *Authors: *Yong Chen ...

https://www.spandidos-publications.com/mmr/15/1/235

Camurati-Engelmann Disease ... scoliosis*Cartilage Hair Hypoplasia ... scoliosis*Cartilage-hair hypoplasia-like syndrome ... ... BRESHECK syndrome *Bruck syndrome *CAMFAK syndrome *Ceroid lipofuscinosis, neuronal 3, juvenile *Chromosome 8 trisomy syndrome ... Lujan-Fryns syndrome ... scoliosis. M. *Maffucci Syndrome ... scoliosis*Marden-Walker Syndrome ... scoliosis*Marfan syndrome ... Bartenwerfer syndrome ... scoliosis*Battaglia Neri syndrome ... scoliosis*Bd syndrome ... scoliosis*Becker nevus syndrome ... ...

https://www.rightdiagnosis.com/sym/scoliosis.htm

Camurati-Engelmann Syndrome. C08 - Respiratory Tract Diseases. Wegeners Granulomatosis. Wegener Granulomatosis. C10 - Nervous ...

http://decs2018.bvsalud.org/I/rep_i2007.htm

Camurati-Engelmann Syndrome. Cleidocranial Dysplasia. Ellis-Van Creveld Syndrome. Enchondromatosis. Hyperostosis, Cortical, ... Langer-Giedion Syndrome - Osteochondroma - Osteogenesis Imperfecta - Osteosclerosis - Short Rib-Polydactyly Syndrome - ... Whonamedit - Melnick-Needles syndrome. www.whonamedit.com 4 rare-diseases - National Organization for Rare Disorders. www. ... Narrow term(s): - Achondroplasia - Chondrodysplasia Punctata - Cleidocranial Dysplasia - Ellis-Van Creveld Syndrome - ...

http://www.hon.ch/HONselect/RareDiseases/EN/C05.116.099.708.html

Camurati-Engelmann Syndrome Entry term(s). Camurati Engelmann Disease Camurati Engelmann Syndrome Camurati-Engelmann Disease ... Syndrome de Camurati-Engelmann Entry term(s):. Camurati Engelmann Disease. Camurati Engelmann Syndrome. Camurati-Engelmann ... Camurati-Engelmann Syndrome - Preferred Concept UI. M0006211. Scope note. An autosomal dominant form of dysplasia that is ... Engelmann Disease. Engelmanns Disease. Hyperostoses, Diaphyseal. Hyperostosis, Diaphyseal. Progressive Diaphyseal Dysplasia. ...

https://decs.bvsalud.org/en/ths/resource/?id=3993&filter=&q=%E2%8C%A9_another=fr

Camurati-Engelmann Syndrome. […] of the hands and feet, delayed dentition, extensive caries, delayed puberty, and hypogonadism ... Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet. 2011;43:303-305. ... Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome. [rarediseases.org] ... Syndrome Crystalline Diseases Osteoarthritis Osteoporosis Systemic Vasculitis Rheumatic Manifestations of Systemic Diseases ...

https://www.symptoma.com/en/ddx/hyperhidrosis-hands-and-feet+pediatric-disorder

Camurati-Engelmann Syndrome. 1. + + 339. Ulna Fractures. 1. + + 340. Jaw, Edentulous. 1. + + ...

https://lookfordiagnosis.com/results.php?symptoms=macrophages%3B%20Bone%20Marrow-Derived%20Macrophages%3B%20Monocyte-Derived%20Macrophages&lang=1&parent=%2F&mode=F

Camurati-Engelmann syndrome. Q89.8. CHARGE association (Coloboma, Heart defect, Atresia choanae, Retarded growth and ... Duane syndrome (found in cervico-oculo-acoustic dysplasia or Wildervanck syndrome and in HOXA-1-related syndromes, including ... Hermann syndrome (multiple synostoses syndrome). Q87.89. LEOPARD syndrome (Lentigines, ECG conduction abnormalities, Ocular ... Autosomal dominant optic atrophy and congenital deafness syndrome. H47.2. Autosomal dominant optic atrophy plus syndrome ( ...

https://ut.medicalhomeportal.org/issue/causes-of-hearing-loss-with-icd-10-codes

Prader-Willi Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your ... Possible causes include Plummer-Vinson Syndrome, Esophageal Web, ... Camurati-Engelmann Syndrome Early in the third decade of life, ... cancer 32.69 Role limitations due to emotional problems Malattia di Camurati-Engelmann General population 91.77 HIV 60.83 Hip ... Plummer-Vinson Syndrome The clinical features include intermittent dysphagia for solid foods (rarely or never for liquid).[ ...

https://www.symptoma.com/en/ddx/affected-females-have-been-reported+fatigue+intermittent-dysphagia

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report. Owhonda, R. A., Wells, J. E., Lloyd, E. W ...

https://profiles.wustl.edu/en/publications/?format=&page=1

Ellis-van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see ' Nomenclature ' section below) is a rare genetic disorder of the skeletal dysplasia type. (wikipedia.org)
Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones. (goodwedding.info)
Camurati-Englemann disease CED is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. (goodwedding.info)
Disorders to consider include craniodiaphyseal dysplasia, autosomal dominant Kenny-Caffey syndrome, juvenile Paget disease, Ghosal hematodiaphyseal dysplasia, Worth type autosomal dominant osteosclerosis, sclerosteosis and hyperostosis corticalis generalisata see these terms. (goodwedding.info)
Camurati-Engelmann disease (CAEND, OMIM 131300) is a rare autosomal dominant, progressive diaphyseal dysplasia, which is characterized by hyperosteosis and sclerosis of the diaphyses of long bones. (bvsalud.org)
Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant sclerosing bone dysplasia. (bvsalud.org)
When considering a diagnosis of primary hypertrophic osteoarthropathy (primary HOA, pachydermoperiostosis), also take into account congenital syphilis, diaphyseal dysplasia (Camurati-Engelmann disease), infantile cortical hyperostosis , Caffey disease, and hypervitaminosis A. (medscape.com)

I wanted to say thank you because I also have Camurati Englemann Disease. (lookfordiagnosis.com)
Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull. (medlineplus.gov)
The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly. (medlineplus.gov)
In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. (medlineplus.gov)
The degree of hyperostosis varies among individuals with Camurati-Engelmann disease as does the age at which they experience their first symptoms. (medlineplus.gov)
The prevalence of Camurati-Engelmann disease is unknown. (medlineplus.gov)
Mutations in the TGFB1 gene cause Camurati-Engelmann disease. (medlineplus.gov)
The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of an overly active TGFβ-1 protein. (medlineplus.gov)
As a result, the bones in the arms, legs, and skull are thicker than normal, contributing to the movement and neurological problems often experienced by individuals with Camurati-Engelmann disease. (medlineplus.gov)
Some individuals with Camurati-Engelmann disease do not have an identified mutation in the TGFB1 gene. (medlineplus.gov)
Skull base manifestations of Camurati-Engelmann disease. (medlineplus.gov)
Ellis-van Creveld syndrome is one such disease, part of an emerging class of diseases called ciliopathies . (wikipedia.org)
Known ciliopathies include primary ciliary dyskinesia , Bardet-Biedl syndrome , polycystic kidney and liver disease , nephronophthisis , Alström syndrome , Meckel-Gruber syndrome and some forms of retinal degeneration . (wikipedia.org)
For the rare genetic skeletal disorder sometimes called Engelmann syndrome, see Camurati-Engelmann disease . (wikipedia.org)
Camurati-Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. (wikipedia.org)
Camurati-Engelmann disease is caused by autosomal dominant mutations in the gene TGFB1, localized at chromosome 19q13. (wikipedia.org)
There are two forms: Type 1 is associated with TGFB1 Type 2 is not associated with TGFB1 Type 1 Camurati-Engelmann Disease is associated with an error occurring in the TGFB1 protein. (wikipedia.org)
Born in Warwick, Rhode Island, he began using a wheelchair at the age of 13 due to a bone disease, Camurati-Engelmann syndrome. (wikipedia.org)
Activating mutations in TGFB1 , TGFBR1 , and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function mutations in IRAK4 and MYD88 (Mendelian predisposition to pyogenic bacterial infections) had no detectable impact. (rupress.org)
The differential diagnosis of osteogenesis imperfecta tarda affecting the temporal bone includes otosclerosis, Paget disease, otosyphilis, and Camurati-Engelmann disease. (ajnr.org)
Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management. (bvsalud.org)
Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). (spandidos-publications.com)
Pedigree of Chinese family with Camurati-Engelmann disease. (spandidos-publications.com)
Similarly, skeletal muscle weakness, increased Nox4 binding to RyR1 and oxidation of RyR1 were present in a mouse model of Camurati-Engelmann disease, a nonmalignant metabolic bone disorder associated with increased TGF-β activity. (nih.gov)
A number sign (#) is used with this entry because of evidence that Camurati- Engelmann disease results from domain-specific heterozygous mutations in the. (goodwedding.info)
Camurati-Engelmann disease has characteristic clinical and radiological findings, reducing the need for extensive differential diagnosis. (goodwedding.info)
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. (cdc.gov)
Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene and inheritance is autosomal dominant . (cdc.gov)
[1] [2] In some cases, people have the gene mutation that causes Camurati-Engelmann disease but they never develop symptoms. (cdc.gov)
These cases are referred to as Camurati-Engelmann disease type 2. (cdc.gov)
Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. (cdc.gov)
People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). (cdc.gov)
Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. (bvsalud.org)
Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor ß1 (TGFß1). (bvsalud.org)
Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. (uchicago.edu)
Camurati-Engelmann disease (CED) is a genetic bone-modeling disorder mainly caused by mutations in the gene that encodes transforming growth factor-ß1 (TGF-ß1). (bvsalud.org)
Angioid streaks in a case of Camurati-Engelmann disease. (bezmialem.edu.tr)

In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, null mutations in IL12B and IL12RB1 (Mendelian susceptibility to mycobacterial diseases) impaired the development of IL-17-producing T cells. (rupress.org)
A syndrome inherited as an autosomal recessive trait and incompatible with life. (uams.edu)
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. (sickkids.ca)

Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. (elsevier.com)
MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. (diseaseinfosearch.org)
Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). (childrensmercy.org)
Loss of function mutations of the LEMD3 (MAN1) gene were shown to underlie disorders characterized by increased bone density, namely osteopoikilosis, Buschke-Ollendorff syndrome (BOS), and melorheostosis (9,10). (thefreedictionary.com)

A musculoskeletal syndrome leading to enhanced bone formation, hyperostosis and sclerosis of the diaphyses of the long bones. (mhmedical.com)

The triad of fragile bone, blue sclerae, and progressive hearing impairment was first described by van der Hoeve and de Kleyn in 1917 ( 5 ) and was thus named Van der Hoeve-de Kleyn syndrome. (ajnr.org)
Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. (diseaseinfosearch.org)

Alagille Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
This graph shows the total number of publications written about "Alagille Syndrome" by people in this website by year, and whether "Alagille Syndrome" was a major or minor topic of these publications. (childrensmercy.org)
Below are the most recent publications written about "Alagille Syndrome" by people in Profiles. (childrensmercy.org)

The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). (umassmed.edu)

Until recently, the medical literature did not indicate a connection among many genetic disorders , both genetic syndromes and genetic diseases , that are now being found to be related. (wikipedia.org)
The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. (wikipedia.org)
Page kidney, on the other hand, is a condi- 5 Aortic diseases: coarctation of the aorta and midaortic tion where the kidney is compressed from an adjacent syndrome. (aids.org)

The following text lists signs and symptoms of Angelman syndrome and their relative frequency in affected individuals. (wikipedia.org)

Camurato-engelmann radiographic hallmark of the disorder is bilateral, sometimes symmetrical, periosteal and endosteal bony sclerosis of the diaphyses of long bones resulting in cortical thickening. (goodwedding.info)

Hypertrophic osteoarthropathy (HOA) is a clinical syndrome of clubbing of the fingers and toes, enlargement of the extremities, and painful, swollen joints. (medscape.com)

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. (storysteel.gq)

We describe serial CT and MR imaging findings of the temporal bone in a patient with genetically proved Van der Hoeve-de Kleyn syndrome and discuss the key distinguishing features in the radiologic and clinical differential diagnosis. (ajnr.org)
The clinical diagnosis of Kabuki syndrome was made during follow-up after hip dislocation treatment and confirmed by mutational analysis at a mean age of 4.7 years. (bvsalud.org)
Finding the right clinical trial for MASS syndrome can be challenging. (diseaseinfosearch.org)
Executive function impairments in fibromyalgia syndrome: Relevance of clinical variables and body mass index. (diseaseinfosearch.org)
Chung BH, Bradley T, Grosse-Wortmann L, Blaser S, Dirks P, Hinek A, Chitayat D. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. (sickkids.ca)

BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. (bvsalud.org)
Aromatase deficiency Aromatase excess syndrome. (webdesignpro09.info)

Angelman syndrome or Angelman's syndrome [1] [2] ( AS ) is a genetic disorder that mainly affects the nervous system . (wikipedia.org)
Polycystic ovary syndrome (PCOS) is a complex endocrine and metabolic disorder, and it's diagnosis is difficult. (diseaseinfosearch.org)
CHILD syndrome, a rare genetic disorder that is apparent at birth congenitalis characterized by distinctive skin abnormalities and limb defects affecting one side of the body hemidysplasia. (webdesignpro09.info)
The disorder is caused by deletions or chromosomal rearrangements translocations involving the end of the short arm p of chromosome X Xp A higher ratio of uhnermann to males XXY male with X-linked dominant chondrodysplasia punctata Happle syndrome. (webdesignpro09.info)

Karur GR, Pagano JJ, Bradley T, Lam CZ, Seed M, Yoo SJ, Grosse-Wortmann L. Diffuse Myocardial Fibrosis in Children and Adolescents With Marfan Syndrome and Loeys-Dietz Syndrome. (sickkids.ca)

Kallmann Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
This graph shows the total number of publications written about "Kallmann Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Kallmann Syndrome" was a major or minor topic of these publication. (harvard.edu)
Below are the most recent publications written about "Kallmann Syndrome" by people in Profiles. (harvard.edu)
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. (harvard.edu)

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. (harvard.edu)

These syndromes often have simple Mendelian inheritance patterns and are thus amenable to gene identification. (pubmedcentralcanada.ca)

Skull, spine and pelvic camurati-engelkann may be found on radiographic examination. (goodwedding.info)

The imaging findings of the temporal bone on CT in patients with Van der Hoeve-De Kleyn syndrome have been only rarely described ( 4 , 6 - 10 ), and the MR imaging findings have been sporadically reported by only three authors ( 10 - 12 ). (ajnr.org)
We reviewed the outcomes of management of hip dislocations in patients with Kabuki syndrome with special attention to the diagnostic processes for hip dislocation and Kabuki syndrome. (bvsalud.org)
METHODS: Among 30 patients with mutation-confirmed Kabuki syndrome, we selected six patients who had hip dislocations and reviewed their medical records and plain radiographs. (bvsalud.org)
The management and treatment outcomes of hip dislocations in patients with Kabuki syndrome were evaluated. (bvsalud.org)
None of the patients were diagnosed as having Kabuki syndrome at that time. (bvsalud.org)
Patients generally present with pain in the camurahi-engelmann, waddling gait, easy fatigability, and muscle weakness. (goodwedding.info)
Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. (uams.edu)

Abdel-Al Y, Auger T, El-Gharbawy F: Kenny-Caffey syndrome: Case report and literature review. (mhmedical.com)

Tri-Ponderal Mass Index vs. Fat Mass/Height³ as a Screening Tool for Metabolic Syndrome Prediction in Colombian Children and Young People. (diseaseinfosearch.org)
Association of hs-CRP with various components of metabolic syndrome. (mesams.com)
A Comparative Study on Plasma Fibrinogen and hs-CRP in Metabolic Syndrome. (mesams.com)

Ellis-van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2 , located close to the EVC gene in a head-to-head configuration. (wikipedia.org)
Weyers acrofacial dysostosis is due to another mutation in the EVC gene and hence is allelic with Ellis-van Creveld syndrome. (wikipedia.org)
[7] Angelman syndrome is typically due to a new mutation rather than one inherited from a person's parents. (wikipedia.org)

Loeys-Dietz syndrome: a primer for diagnosis and management. (sickkids.ca)
Unexpected contained rupture of a ductus arteriosus aneurysm found at surgical repair in an infant with Loeys-Dietz syndrome. (sickkids.ca)
Barnett CP, Chitayat D, Bradley TJ, Wang Y, Hinek A. Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? (sickkids.ca)

Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. (harvard.edu)

Autoimmune Lymphoproliferative Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
Below are the most recent publications written about "Autoimmune Lymphoproliferative Syndrome" by people in Profiles. (uchicago.edu)

Anatomy4

Organisms3

Diseases194

Chemicals and Drugs6

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Psychiatry and Psychology8

Phenomena and Processes23

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Named Groups1

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Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. (1/24)

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. (2/24)

Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. (3/24)

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. (4/24)

Camurati-Engelmann's disease: a case report. (5/24)

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). (6/24)

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. (7/24)

Rare osteodysplasia of the temporal bone. (8/24)

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