Wieacker-Wolff syndrome
ORPHA:3454· ICD-10 Q87.8
Definition
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable, X-linked recessive
- Age of onset
- Neonatal