JSON

Down syndrome

^ http://www.ebi.ac.uk/efo/EFO_0001064


A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)

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 MENTAL RETARDATION. 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 chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004

Synonyms: DOWN'S SYNDROME, Trisomy 21 NOS, Trisomy 21, Mitotic Nondisjunction, Trisomy 21, Meiotic Nondisjunction, Down's syndrome NOS (disorder), Complete trisomy 21 syndrome (disorder), G Trisomy, Down's syndrome NOS, Partial Trisomy 21 Down Syndrome, Down Syndrome, Partial Trisomy 21, Syndrome, Down's, Trisomy 21, T21 - Trisomy 21, Syndrome, Down, Complete trisomy 21 syndrome, trisomy 21 syndrome, Mongolism, Downs Syndrome, Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome, Down's syndrome - trisomy 21

Term info

NIFSTD definition citation

NIFSTD:nlx_dys_20090502

SNOMEDCT definition citation

SNOMEDCT:41040004

bioportal provenance

Down's syndrome NOS[accessedResource: SNOMEDCT:254263008][accessDate: 05-04-2011], Trisomy 21, Mitotic Nondisjunction[accessedResource: MSH:D004314][accessDate: 05-04-2011], Down's syndrome NOS (disorder)[accessedResource: DOID:14250][accessDate: 05-04-2011], Complete trisomy 21 syndrome[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011], Syndrome, Down[accessedResource: MSH:D004314][accessDate: 05-04-2011], Mongolism[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011], Partial Trisomy 21 Down Syndrome[accessedResource: MSH:D004314][accessDate: 05-04-2011], Trisomy 21 NOS[accessedResource: SNOMEDCT:254263008][accessDate: 05-04-2011], Down's syndrome[accessedResource: ICD9:758.0][accessDate: 05-04-2011], Down Syndrome, Partial Trisomy 21[accessedResource: MSH:D004314][accessDate: 05-04-2011], Syndrome, Down's[accessedResource: MSH:D004314][accessDate: 05-04-2011], Down's syndrome - trisomy 21[accessedResource: DOID:14250][accessDate: 05-04-2011], 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 MENTAL RETARDATION. 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)[accessedResource: MSH:D004314][accessDate: 05-04-2011], T21 - Trisomy 21[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011], Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome[accessedResource: NCIt:C2993][accessDate: 05-04-2011], G Trisomy[accessedResource: DOID:14250][accessDate: 05-04-2011], Trisomy 21, Meiotic Nondisjunction[accessedResource: MSH:D004314][accessDate: 05-04-2011], Downs syndrome[accessedResource: NIFSTD:nlx_dys_20090502][accessDate: 05-04-2011], Trisomy 21 Syndrome[accessedResource: NCIt:C2993][accessDate: 05-04-2011], Complete trisomy 21 syndrome (disorder)[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011], A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)[accessedResource: NIFSTD:nlx_dys_20090502][accessDate: 05-04-2011], A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004[accessedResource: NCIt:C2993][accessDate: 05-04-2011], Trisomy 21[accessedResource: MSH:D004314][accessDate: 05-04-2011]

comment

May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future

term editor

Tomasz Adamusiak, James Malone

Term relations

Subclass of: