Duane-radial ray syndrome

Disease Overview

Duane-radial ray syndrome (DRRS) 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). Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger) and partial or complete absence of bones in the forearm. Together, these hand and arm abnormalities are called radial ray malformations. DRRS is caused by mutations in the SALL4 gene and is inherited in an autosomal dominant manner.[1861][1863] Treatment of DRRS may include surgery to correct Duane anomaly and radial ray malformations.[1863]

Synonyms

• Okihiro syndrome
• DR syndrome
• Duane anomaly with radial abnormalities and deafness
• DRRS
• Acrorenoocular syndrome