Michels syndrome
Michels Syndrome
Michels Syndrome (pronounced: Mee-shells Syndrome) is a rare genetic disorder characterized by the absence or underdevelopment of the cranial nerves that control eye movements and facial expression.
Etymology
The syndrome is named after the French physician, Paul Michels, who first described the condition in 1949.
Symptoms
The primary symptoms of Michels Syndrome include congenital ptosis (drooping of the upper eyelid), strabismus (misalignment of the eyes), and facial paralysis. Other symptoms may include hearing loss, difficulty swallowing, and speech problems.
Causes
Michels Syndrome is caused by mutations in the HOXA1 gene. This gene provides instructions for making a protein that is involved in the development of the brain and the cranial nerves.
Diagnosis
Diagnosis of Michels Syndrome is based on clinical examination and genetic testing to identify mutations in the HOXA1 gene.
Treatment
Treatment for Michels Syndrome is symptomatic and supportive. This may include surgery to correct eyelid drooping and eye misalignment, as well as speech and physical therapy to help manage facial paralysis and other symptoms.
Related Terms
External links
- Medical encyclopedia article on Michels syndrome
- Wikipedia's article - Michels syndrome
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