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Achondrogenesis type II

rare

Achondrogenesis 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.

Causal genes
COL2A1
Also known as
ACG2 · achondrogenesis, Langer-Saldino type · achondrogenesis, type II · achondrogenesis, type II or hypochondrogenesis

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