Bohring-Opitz syndrome

Bohring-Opitz Syndrome (BOS) is a rare genetic disorder first described by Axel Bohring and colleagues in 1999. It is characterized by distinctive facial features, growth delays, intellectual disability, and various physical abnormalities. The syndrome is caused by mutations in the ASXL1 gene.

Symptoms and Signs

The symptoms of Bohring-Opitz Syndrome vary among individuals. However, some common features include:

• Distinctive facial features such as prominent eyebrows, a small mouth, and a prominent nose.
• Growth delays, including low birth weight and slow growth.
• Intellectual disability, which can range from mild to severe.
• Physical abnormalities, such as microcephaly (small head size), hypotonia (low muscle tone), and feeding difficulties.

Genetics

Bohring-Opitz Syndrome is caused by mutations in the ASXL1 gene. This gene provides instructions for making a protein that is involved in regulating other genes. Mutations in the ASXL1 gene disrupt this regulation, leading to the symptoms of Bohring-Opitz Syndrome.

Diagnosis

Diagnosis of Bohring-Opitz Syndrome is based on clinical features and confirmed by genetic testing. The testing involves sequencing the ASXL1 gene to identify any mutations.

Treatment

There is currently no cure for Bohring-Opitz Syndrome. Treatment is supportive and based on the symptoms in each individual. This may include physical therapy, special education, and treatment for any physical abnormalities.

Prognosis

The prognosis for individuals with Bohring-Opitz Syndrome varies. Some individuals have a severe form of the disorder and may not survive past infancy, while others have a milder form and can live into adulthood.

See Also

• Genetic disorders
• ASXL1
• Microcephaly
• Hypotonia

NIH genetic and rare disease info

• NIH info on Bohring-Opitz syndrome

Bohring-Opitz syndrome is a rare disease.

Bohring-Opitz syndrome Resources
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