Qazi Markouizos syndrome

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Qazi Markouizos syndrome (pronunciation: kah-zee mar-koo-ee-zos sin-drome) is a rare genetic disorder characterized by a range of physical and developmental abnormalities.

Etymology

The syndrome is named after Dr. Qazi and Dr. Markouizos, the physicians who first described the condition in medical literature.

Symptoms

The symptoms of Qazi Markouizos syndrome can vary greatly among affected individuals. Common symptoms include intellectual disability, seizures, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features.

Causes

Qazi Markouizos syndrome is caused by mutations in a specific gene. The exact gene is currently unknown, but research is ongoing to identify it. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have mutations for an individual to be affected.

Diagnosis

Diagnosis of Qazi Markouizos syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Qazi Markouizos syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to control seizures.

Prognosis

The prognosis for individuals with Qazi Markouizos syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See also

External links

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