FG syndrome

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FG Syndrome

FG Syndrome (pronounced as F G syndrome) is a rare genetic disorder that primarily affects males. It is characterized by physical abnormalities, developmental delay, and cognitive impairment. The syndrome was first described in 1974 by Opitz and Kaveggia, who named it after the initials of the surnames of the first families diagnosed with the condition.

Etymology

The term "FG Syndrome" is derived from the initials of the surnames of the first two families in which the condition was identified. The syndrome was first described in 1974 by John M. Opitz and Eugene Kaveggia, hence it is also known as Opitz-Kaveggia syndrome.

Symptoms

The symptoms of FG Syndrome can vary greatly among affected individuals. Common symptoms include intellectual disability, hypotonia (low muscle tone), constipation, and distinctive facial features such as a broad forehead, wide-set eyes, and a broad nasal bridge. Some individuals may also have congenital heart defects or anal abnormalities.

Genetics

FG Syndrome is caused by mutations in the MED12 gene, which is located on the X chromosome. This gene is involved in the regulation of several other genes and plays a crucial role in development. Because FG Syndrome is an X-linked condition, it primarily affects males.

Diagnosis

Diagnosis of FG Syndrome is based on clinical evaluation, detailed patient history, and a variety of specialized tests. Genetic testing can confirm a diagnosis by identifying a mutation in the MED12 gene.

Treatment

There is currently no cure for FG Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage symptoms.

Related Terms

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