/Down syndrome

Down syndrome

Rare Disease

MONDO:0008608

Also Known As

Down syndromeDown syndrome, Isolated casesDown's syndromeDown's syndrome - trisomy 21Downs syndromeG trisomyleukemia, megakaryoblastic, with or without Down syndrome, somatictrisomy 21 (Down syndrome)complete trisomy 21 syndrometrisomy 21trisomy 21 syndromeDown syndrome chromosome regionDown syndrome critical regionleukemia, megakaryoblastic, of Down syndrometransient myeloproliferative disorder of Down syndrome

Definition

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.