Achondrogenesis Type II

It is a severe genetic disorder of bone growth in which infants have short arms and legs, small chest and short ribs, and underdeveloped lungs. The disorder can also affect bone formation in the spine and pelvis. Achondrogenesis occurs when there are mutations in the COL2A1 gene. This gene produces type II collagen. Mutations to the gene cause interference in the production of type II collagen, preventing bones and connective tissue to develop properly. Also called Achondrogensis Langer-Saldino type, chondrogenesis imperfecta, and achondrogenesis-hypochondrogenesis.