Overview

Type of disease: Rare conditions

Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). Atelosteogenesis type 2 causes serious health problems and 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.