Fragile X syndrome
ORPHA:908· ICD-10 Q99.2
Definition
A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.
- Prevalence
- 1-5 / 10 000
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy, Neonatal