Atelosteogenesis type 2

Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. 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 (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).

The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.

Other names

AO2; Atelosteogenesis de la Chapelle type; Atelosteogenesis, type 2; De la Chapelle dysplasia; McAlister dysplasia; Neonatal osseous dysplasia 1

Inheritance pattern

Autosomal recessive

Related genes

SLC26A2

Source: MedlinePlus Genetics, U.S. National Library of Medicine.