Rambam Hasharon syndrome

Rambam Hasharon syndrome is a rare genetic disorder characterized by a combination of distinctive physical features, intellectual disability, and various other symptoms. The syndrome was first described in 1980 by a team of researchers at the Rambam Medical Center and Hasharon Hospital in Israel, hence its name.

Symptoms and Signs

The most common symptoms of Rambam Hasharon syndrome include intellectual disability, microcephaly (small head size), short stature, and distinctive facial features such as a prominent forehead, deep-set eyes, and a small jaw. Other symptoms can include hearing loss, vision problems, and various skeletal abnormalities. The severity of these symptoms can vary widely among individuals with the syndrome.

Causes

Rambam Hasharon syndrome is caused by mutations in a specific gene on the X chromosome. This gene is responsible for producing a protein that plays a crucial role in the development of the brain and other parts of the body. When this gene is mutated, it can lead to the various symptoms associated with the syndrome.

Diagnosis

Diagnosis of Rambam Hasharon syndrome is based on the presence of the characteristic physical features and other symptoms. Genetic testing can confirm the diagnosis by identifying the specific gene mutation.

Treatment

There is currently no cure for Rambam Hasharon syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This can include physical therapy, speech therapy, and other supportive services.

See Also

• List of genetic disorders
• X-linked recessive inheritance

References

• Rambam Hasharon syndrome at Orphanet
• Rambam Hasharon syndrome at National Organization for Rare Disorders

NIH genetic and rare disease info

• NIH info on Rambam Hasharon syndrome

Rambam Hasharon syndrome is a rare disease.

Rambam Hasharon syndrome Resources
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