Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
...
Signs and Symptoms
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Preferred term
Down Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- 47,XX,+21
- 47,XY,+21
- Down's Syndrome
- Downs Syndrome
- Mongolism
- Syndrome, Down's
- Trisomy 21
- Trisomy G
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, 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
- 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
In other languages
-
Finnish
-
21-trisomia
-
Down
-
Downin syndrooma
-
mongoloidi
-
mongoloidismi
-
mongoloismi
-
määrittämätön Downin oireyhtymä
-
syndroma Down
-
syndroma Down non specificatum
-
Swedish
URI
http://www.yso.fi/onto/mesh/D004314
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}