Mukamel syndrome
Mukamel Syndrome
Mukamel syndrome (pronunciation: moo-kah-mel sin-drome) is a rare genetic disorder characterized by developmental delay, intellectual disability, and distinctive facial features.
Etymology
The syndrome is named after Dr. Elia Mukamel, who first described the condition in 2008. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms."
Symptoms
The primary symptoms of Mukamel syndrome include developmental delay, intellectual disability, and distinctive facial features such as a broad forehead, deep-set eyes, and a thin upper lip. Other symptoms may include microcephaly (small head size), hypotonia (low muscle tone), and seizures.
Causes
Mukamel syndrome is caused by mutations in the ZBTB20 gene. This gene provides instructions for making a protein that is involved in the development of the brain and other parts of the body.
Diagnosis
Diagnosis of Mukamel syndrome is based on clinical examination, genetic testing, and the presence of characteristic symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the ZBTB20 gene.
Treatment
There is currently no cure for Mukamel syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medication for seizures.
Prognosis
The prognosis for individuals with Mukamel syndrome varies. Some individuals may have mild symptoms and live independently, while others may require lifelong care and support.
See also
External links
- Medical encyclopedia article on Mukamel syndrome
- Wikipedia's article - Mukamel syndrome
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