Muenke syndrome

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Muenke Syndrome

Muenke Syndrome (pronounced: mewn-keh sin-drome) is a rare genetic disorder characterized by specific abnormalities of the skull, hands, and feet. It is named after Maximilian Muenke, a German-American medical geneticist who first described the condition.

Etymology

The term "Muenke Syndrome" is derived from the name of the physician who first identified the condition, Dr. Maximilian Muenke. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."

Symptoms

The most common symptom of Muenke Syndrome is craniosynostosis, a condition in which the sutures (joints) between the bones of the young skull close prematurely, causing an abnormally shaped head. Other symptoms may include hearing loss, developmental delay, and abnormalities of the hands and feet.

Causes

Muenke Syndrome is caused by a mutation in the FGFR3 gene, which provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue.

Diagnosis

Diagnosis of Muenke Syndrome is based on a clinical examination and confirmed by genetic testing to identify the FGFR3 gene mutation.

Treatment

Treatment for Muenke Syndrome is symptomatic and supportive. Surgery may be necessary to correct craniosynostosis and other physical abnormalities. Other treatments may include physical therapy, special education, and hearing aids.

Related Terms

See Also

External links

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