Down syndrome
ORPHA:870· ICD-10 Q90.0
Definition
A total autosomal trisomy that is 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, neurosensorial or endocrine defects.
- Prevalence
- 6-9 / 10 000
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal