Duane-radial ray syndrome

Duane-radial ray syndrome, also called Okihiro syndrome, is a rare autosomal dominant disorder that mainly affects the eyes, causing Duane anomaly, and causes abnormalities of the bones of the arms and hands, known as radial ray malformations. It is caused by mutations in the SALL4 gene, which plays an important role in embryonic development, and it is diagnosed through clinical examination together with genetic testing and imaging studies. Treatment depends on the individual's symptoms and can include surgery for eye movement problems, skeletal abnormalities, heart problems and other associated features, and care typically requires coordination among several medical specialists.