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Down Syndrome MeSH Descriptor Data 2026


MeSH Heading
Down Syndrome
Tree Number(s)
C10.597.606.360.220
C16.131.077.327
C16.131.260.260
C16.320.180.260
Unique ID
D004314
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D004314
Scope Note
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, single transverse palmar 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)
Entry Term(s)
47,XX,+21
47,XY,+21
Down Syndrome, Partial Trisomy 21
Down's Syndrome
Mongolism
Partial Trisomy 21 Down Syndrome
Trisomy 21
Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction
Trisomy G
Public MeSH Note
93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
Online Note
use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74
History Note
93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
Date Introduced
1993/01/01
Last Updated
2022/05/23
Down Syndrome Preferred
Down Syndrome, Partial Trisomy 21 Narrower
Trisomy 21, Meiotic Nondisjunction Narrower
Trisomy 21, Mitotic Nondisjunction Narrower
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