Alternative Names
DRRS; Okihiro syndrome
Symptoms & Characteristics
Duane-radial ray syndrome is a condition that affects the eyes and causes abnormalities of bones in the arms and hands.
Duane-radial ray syndrome is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome), which results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). As the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.
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.
People with Duane-radial ray syndrome may have a variety of other signs and symptoms. Additional features can include unusually shaped ears, hearing loss, heart defects, kidney defects, a distinctive facial appearance, clubfoot, and fused spinal bones (vertebrae).
The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other conditions. For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations and kidney defects. Both conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Duane-radial ray syndrome and acro-renal-ocular syndrome are separate disorders or part of a single syndrome. The features of Duane-radial ray syndrome also overlap with those of a condition called Holt-Oram syndrome. However, these two conditions are caused by mutations in different genes.
Treatment
The management and treatment of Duane-radial ray syndrome depends on the specific symptoms. Early diagnosis, routine surveillance and treatment may help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
Duane-radial ray syndrome is considered rare, as only a few affected families have been reported. Its exact prevalence is unknown.
Genetics & Inheritance
Duane-radial ray syndrome is caused by mutations in the SALL4 gene.
Duane-radial ray syndrome is often inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person inherits the mutation from an affected parent. Other cases result from new, sporadic mutations in the SALL4 gene. These cases occur in people with no family history of the disorder.
Genetic Testing
Clinical genetic testing for Duane-radial ray syndrome may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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