Синдром Вівера
ORPHA:3447· ICD-10 Q87.3· Weaver syndrome
Визначення(English summary)
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Not applicable
- Вік початку
- Antenatal, Neonatal