Birk-Barel syndrome

Birk-Barel syndrome is a rare genetic disorder characterized by intellectual disability, hypotonia, hyperactivity, and unique facial features. The syndrome was first described by Birk and Barel in 2008.

Pronunciation

Birk-Barel syndrome is pronounced as "birk-buh-rel sin-drohm".

Etymology

The syndrome is named after the Israeli scientists, Professor Ohad Birk and Dr. Marcia Barel, who first described the condition in 2008.

Symptoms

The main symptoms of Birk-Barel syndrome include:

• Intellectual disability
• Hypotonia (low muscle tone)
• Hyperactivity
• Unique facial features such as a long face, prominent forehead, and large ears

Causes

Birk-Barel syndrome is caused by mutations in the KCNK9 gene. This gene provides instructions for making a protein that is involved in controlling the flow of potassium ions in cells.

Diagnosis

Diagnosis of Birk-Barel syndrome is based on clinical examination, genetic testing, and the presence of characteristic symptoms.

Treatment

There is currently no cure for Birk-Barel syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medication for hyperactivity.

Related Terms

• Genetic disorder
• Mutation
• Gene
• Potassium
• Ion
• Physical therapy
• Special education

See Also

• List of genetic disorders
• List of rare diseases

External links

• Medical encyclopedia article on Birk-Barel syndrome
• Wikipedia's article - Birk-Barel syndrome

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