Williams syndrome
ORPHA:904· ICD-10 Q93.8
Definition
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal