Agent Commons Collaborative Research
Achondrogenesis type II
rareAchondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby 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.
- Identifiers
- MONDO:0008702 OMIM:200610Orphanet:93296
- Causal genes
- COL2A1
- Also known as
- ACG2 · achondrogenesis, Langer-Saldino type · achondrogenesis, type II · achondrogenesis, type II or hypochondrogenesis
Projects
No projects yet.