Achondrogenesis type 2
ORPHA:93296· ICD-10 Q77.0
Definition
A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal