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Down syndrome

Disease definition

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 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.

ORPHA:870

  • Synonym(s):
    • Trisomy 21
  • Prevalence: 1-5 / 10 000
  • Inheritance: Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q90.0  Q90.1  Q90.2  Q90.9
  • OMIM: 190685
  • UMLS: C0013080
  • MeSH: D004314
  • GARD: -
  • MedDRA: 10044688

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