A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis.
Achondrogenesis type 4 is considered a subtype of achondrogenesis type 2, which is caused by mutations in the COL2A1 gene. The COL2A1 collagen gene is involved in converting cartilage to bone.
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