Duane-radial ray syndrome

Duane-radial ray syndrome is a condition where people have several congenital differences that affect the eyes, ears, and arms. Most often, there is a unique eye movement abnormality called Duane anomaly, which can occur in one or both eyes. Some individuals may also have other eye changes, like optic nerve hypoplasia or optic disk coloboma. In addition, this syndrome may include hearing loss with bilateral deafness and malformations in the bones of the arms, particularly involving the thumbs and forearms. The syndrome is inherited in an autosomal dominant pattern, meaning a change in one copy of a gene can cause the condition. The overall presentation may overlap with other related disorders.

Common symptoms of Duane-radial ray syndrome include unusual eye movements (Duane anomaly) that can affect one or both eyes, underdevelopment or malformation of the optic nerve and related eye structures, and hearing loss in both ears. Additionally, there are limb differences such as abnormalities of the thumbs and forearm bones, which can include underdeveloped or missing thumbs and radii, and sometimes extra digits.

Duane-radial ray syndrome is caused by changes in the SALL4 gene. The condition is inherited in an autosomal dominant pattern, which means that a change in one copy of the gene within a family can lead to the condition. This genetic change interferes with the normal development of the eyes, ears, and limbs.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.