Descriptors Found: 1
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Descriptor English:   Down Syndrome 
Descriptor Spanish:   Síndrome de Down 
Descriptor Portuguese:   Síndrome de Down 
Synonyms English:   47,XX,+21
Down Syndrome, Partial Trisomy 21
Down's Syndrome
Downs Syndrome
Partial Trisomy 21 Down Syndrome
Syndrome, Down
Syndrome, Down's
Trisomy 21
Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction
Trisomy G  
Tree Number:   C10.597.606.360.220
Definition English:   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) 
History Note English:   93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   30934 
Unique Identifier:   D004314 

Occurrence in VHL: