Atelosteogenesis, type 2

AO2; De la Chapelle dysplasia; McAlister dysplasia; Neonatal osseous dysplasia 1

Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is inherited in an autosomal recessive pattern and is extremely rare, infants with the disorder are usually stillborn, those that that survive birth die shortly after birth from respiratory failure. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (cleft palate), distinc ...