Achondrogenesis, type 2

ACG2; Chondrogenesis imperfecta; Langer-Saldino achondrogenesis; Langer-Saldino dysplasia

Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. The disorder is characterized by a short body and limbs and a lack of bone formation in the spine and pelvis. Achondrogenesis, type 2 is a subtype of collagenopathy, types II and XI. Infants with this disorder have short arms and legs, a small chest with short ribs, and underdeveloped lungs. The skull bones may be soft, but they often appear normal on X-ray images. In contrast, bones in the spine (vertebrae) and pelvis d ...