[1] Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen.

[citation needed] The signs and symptoms of atelosteogenesis, type 2, are similar to those of another skeletal disorder called diastrophic dysplasia.

[citation needed] Atelosteogenesis, type 2 is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene.

Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2.

[citation needed] This article incorporates public domain text from The U.S. National Library of Medicine