Duane-Radial Ray Syndrome
Type of disease: Rare conditions
Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations. Duane-radial ray syndrome is caused by mutations in the SALL4 gene. It is often inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. Some cases result from new mutations in the SALL4 gene. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.