Duane-radial ray syndrome
Duane-radial ray syndrome
Duane-radial ray syndrome (pronounced: doo-ahn-ray-dee-al ray sin-drome), also known as Okihiro syndrome, is a rare genetic disorder characterized by abnormalities of the eyes and bones in the arms and hands.
Etymology
The syndrome is named after two physicians, Alexander Duane and Melvin Okihiro, who first described the condition in the medical literature. The term "radial ray" refers to the radial bone in the forearm and the associated structures, which are often affected in this condition.
Symptoms
People with Duane-radial ray syndrome typically have a specific eye movement disorder called Duane anomaly and abnormalities of the bones in the arms and hands. The most common skeletal abnormality is radial ray malformation, which affects the development of the thumb and possibly other fingers. Other symptoms may include hearing loss, kidney abnormalities, and heart defects.
Causes
Duane-radial ray syndrome is caused by mutations in the SALL4 gene. This gene provides instructions for making a protein that is involved in the development of many parts of the body, including the eyes and limbs.
Diagnosis
Diagnosis of Duane-radial ray syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the SALL4 gene.
Treatment
Treatment for Duane-radial ray syndrome is symptomatic and supportive. It may include physical therapy, surgery to correct skeletal abnormalities, and management of any associated conditions such as kidney or heart defects.
Prognosis
The prognosis for individuals with Duane-radial ray syndrome varies depending on the severity of symptoms. With appropriate treatment and management, many individuals with this condition lead healthy, productive lives.
External links
- Medical encyclopedia article on Duane-radial ray syndrome
- Wikipedia's article - Duane-radial ray syndrome
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