Okamoto syndrome
Okamoto Syndrome
Okamoto syndrome (pronunciation: oh-kah-moh-toh sin-drohm) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities.
Etymology
The syndrome is named after the Japanese geneticist, Dr. Hiroshi Okamoto, who first described the condition in 1975.
Symptoms and Signs
The most common symptoms of Okamoto syndrome include intellectual disability, distinctive facial features, and skeletal abnormalities. These facial features often include a broad forehead, wide-set eyes, a short nose with a broad tip, and a wide mouth with full lips. Skeletal abnormalities may include short stature, abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and toes.
Causes
Okamoto syndrome is caused by mutations in a gene. The exact gene responsible for the condition is currently unknown. It is thought to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Okamoto syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.
Treatment
Treatment of Okamoto syndrome is symptomatic and supportive. This may include physical therapy for skeletal abnormalities, special education services for intellectual disability, and other interventions as needed.
See Also
References
External Links
External links
- Medical encyclopedia article on Okamoto syndrome
- Wikipedia's article - Okamoto syndrome
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