Simpson-Golabi-Behmel syndrome
ORPHA:373· ICD-10 Q87.3
Definition
A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal