Achondrogenesis, type 2 Treatment and Symptoms 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 do not harden, or ossify. Typical facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate). The abdomen is enlarged, and excess fluid builds up in the body before birth (a condition called hydrops fetalis). As a result of these serious health problems, infants are usually premature and stillborn or die shortly after birth from respiratory failure. Some infants have lived for a time, however, with intensive medical support.