Catalog

Achondrogenesis type 2

No MMS code

Link to WHO Definition

Achondrogenesis type 2 – http://id.who.int/icd/entity/1935291412

Achondrogenesis type 2, a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterised 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.