Muenke syndrome
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
- Medical encyclopedia article on Muenke syndrome
- Wikipedia's article - Muenke syndrome
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