Atelosteogenesis type III
ORPHA:56305· ICD-10 Q78.8
Definition
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal