The topic Okihiro Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Duane-Radial Ray Syndrome.

Quick Summary:

• Duane-Radial Ray Syndrome (DRRS) is an extremely rare genetic disorder; very few families with DRRS have been described in the scientific literature. The syndrome is caused by mutation(s) in the SALL4 gene
• The SALL family of genes code for transcription factors that bind DNA at specific locations to regulate gene expression for fetal growth. A mutation in SALL4 leads to lack of specific transcription factors. This results in signs and symptoms, such as abnormal eye and bone development, during the fetal stage
• Duane-Radial Ray Syndrome is inherited in an autosomal dominant manner, in which a single copy of the defective gene in each cell of an individual is sufficient to cause disorder. Thus, having a family history of the disorder is a major risk factor for its development
• The disorder may affect one or both sides of the body. The symptoms may include a long, weak or absent thumb, fused vertebrae, clubfeet, vision and hearing impairment, and kidney abnormalities, among others. Progressive loss of hearing, extremely poor vision, and progressive kidney malfunction are some potential complications that could arise from Duane-Radial Ray Syndrome
• Duane-Radial Ray Syndrome is diagnosed with the help of a physical examination, symptom assessment, family medical history evaluation, imaging studies to check for bone and organ abnormalities, and blood and urine tests. It may be confirmed by genetic molecular testing
• The treatment options for DRRS are tailored to each affected individual’s symptoms. The treatments often include the use of vision and hearing aids, corrective surgery, and medication. The prognosis of Duane-Radial Ray Syndrome depends upon the severity of the signs and symptoms. However, currently, no specific data on prognosis is available owing to the very few reported cases

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