Achondrogenesis, type 2 is an uncommon skeletal dysplasia that is autosomal dominant and occurs at a frequency of approximately 0.2 per 100,000 births.

[1] Also known by the name Langer-Saldino achondrogenesis, it is one of the fatal short-limbed dwarfisms linked to structural mutations in type II collagen.

Most of these babies are stillborn, delivered before their due date, or pass away from cardiorespiratory failure soon after delivery, meaning that they do not live to term.

Type II collagen molecule assembly is disrupted by mutations in the COL2A1 gene, impairing the normal development of bones and other connective tissues.

[5] Because achromogenesis type 2 is caused by a mutated gene that only needs one copy in each cell, it is regarded as an autosomal dominant disorder.