Ellis Van Creveld syndrome
ORPHA:289· ICD-10 Q77.6
Definition
A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal