Type II Achondrogenesis

**Semantic type:** Congenital Abnormality|Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Achondrogenesis, Type II - Hypochondrogenesis - Langer-Saldino Achondrogenesis