Achondrogenesis type II

MONDO:0008702

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.

Also known as: achondrogenesis type II, achondrogenesis, Langer-Saldino type, achondrogenesis, type II or hypochondrogenesis, ACG2, achondrogenesis type 2, achondrogenesis, type 2, achondrogenesis, type IB, achondrogenesis, type IB, formerly

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