Okihiro syndrome

Okihiro syndrome, also known as Duane-radial ray syndrome (DRRS), is a rare genetic disorder characterized by abnormalities of the eyes and arms. It was first described by Wayne Okihiro, a Canadian pediatric neurologist, in 1977.

Symptoms and Signs

The primary symptoms of Okihiro syndrome include Duane anomaly, a congenital eye movement disorder, and radial ray malformation, which affects the bones in the arms and hands. Other symptoms may include hearing loss, kidney abnormalities, and heart defects.

Causes

Okihiro syndrome is caused by mutations in the SALL4 gene. This gene provides instructions for producing a protein that is involved in the development of the arms and eyes. The SALL4 protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

Diagnosis

Diagnosis of Okihiro 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 Okihiro syndrome is symptomatic and supportive. It may include physical therapy for hand and arm abnormalities, surgery for severe eye movement restrictions, and regular monitoring for potential hearing loss and kidney problems.

Epidemiology

Okihiro syndrome is a rare disorder. The exact prevalence is unknown, but it is estimated to affect less than 1 in 1,000,000 individuals worldwide.

See Also

• Genetic disorder
• Duane anomaly
• SALL4

NIH genetic and rare disease info

• NIH info on Okihiro syndrome

Okihiro syndrome is a rare disease.

Okihiro syndrome Resources
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