Atelosteogenesis type 2 (AO2) is a severe skeletal disorder affecting cartilage and bone development. Affected infants have very short arms and legs, a narrow chest, prominent rounded abdomen, distinctive facial features, cleft palate, clubfoot, and severe respiratory complications. Infants with AO2 are usually stillborn or die shortly after birth due to severe respiratory failure. Some infants have lived for a short time with intensive medical support. AO2 is caused by pathogenic variants in the SLC26A2 gene.