Beckwith-Wiedemann syndrome
ORPHA:116· ICD-10 Q87.3
Definition
A rare imprinting disorder characterized by pre- and postnatal overgrowth, macroglossia, abdominal wall defects and an elevated tumor risk. The clinical expression is variable, ranging from lateralised overgrowth to a pronounced clinical presentation.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Antenatal, Neonatal