Achondrogenesis parenti-fraccaro type

An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is the most severe of a spectrum of disorders caused by mutations in the COL2A1 gene, characterized by short limbs, small chest and lungs, and abnormal ossification of the spine and pelvis. Often, infants die at birth or shortly thereafter.

Disease Alternative Name

type ii achondrogenesis
hypochondrogenesis
achondrogenesis
type ii
langer-saldino achondrogenesis
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