Down Syndrome (Trisomy 21) is the most common identifiable genetic cause of intellectual disability. It is due to the presence of all or part of a third copy of chromosome 21. Individuals with Down syndrome have a characteristic facial appearance and hypotonia in infancy. About half are born with a heart defect.
5 A's
of Down Syndrome can be used to remember the features associated with Down syndrome.
A
- Advanced maternal ageA
- Alzheimer's disease (early)A
- Acute Myeloid Leukaemia (AML)/Acute lymphocytic leukemia (ALL)A
- Atrioventricular septal defectsA
- Atresia (duodenal)On examination, individuals will have: