Birk-Barel syndrome
Birk-Barel syndrome is a rare genetic disorder characterized by intellectual disability, hypotonia (low muscle tone), distinctive facial features, and various physical abnormalities. It is caused by mutations in the KCNK9 gene and is inherited in an autosomal recessive manner.
Symptoms and Signs[edit | edit source]
The primary symptoms of Birk-Barel syndrome include intellectual disability, which can range from mild to severe, and hypotonia. Individuals with this syndrome may also have distinctive facial features, such as a long face, prominent forehead, large ears, and a small chin. Other physical abnormalities may include microcephaly (small head size), short stature, and various skeletal abnormalities.
Genetics[edit | edit source]
Birk-Barel syndrome is caused by mutations in the KCNK9 gene, which provides instructions for making a protein that plays a crucial role in the function of nerve cells. This protein is involved in the transmission of electrical signals in the brain. Mutations in the KCNK9 gene disrupt the normal function of this protein, leading to the symptoms of Birk-Barel syndrome.
The syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome. Individuals who inherit only one copy of the mutated gene are known as carriers and typically do not show symptoms of the syndrome.
Diagnosis[edit | edit source]
Diagnosis of Birk-Barel syndrome is based on the presence of characteristic symptoms and can be confirmed by genetic testing to identify mutations in the KCNK9 gene.
Treatment[edit | edit source]
There is currently no cure for Birk-Barel syndrome. Treatment is symptomatic and supportive, and may include physical therapy for hypotonia, special education services for intellectual disability, and management of any other physical abnormalities.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Birk-Barel syndrome is a rare disease.
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