Schinzel-Giedion syndrome
ORPHA:798· ICD-10 Q87.0
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal