Bohring-Opitz syndrome

Bohring-Opitz Syndrome (pronounced: bohr-ing op-itz sin-drohm) is a rare genetic disorder first described by Axel Bohring and others in 1999.

Etymology

The syndrome is named after the German pediatrician Axel Bohring and the Dutch pediatrician Bianca Opitz, who were the first to describe the condition.

Definition

Bohring-Opitz Syndrome is a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and various physical abnormalities. The syndrome is caused by mutations in the ASXL1 gene.

Symptoms

The symptoms of Bohring-Opitz Syndrome can vary greatly from person to person. However, common symptoms include:

• Microcephaly (abnormally small head size)
• Proptosis (bulging eyes)
• Exophthalmos (protruding eyeballs)
• Strabismus (crossed eyes)
• Hypertelorism (wide-set eyes)
• Epicanthus (skin fold of the upper eyelid covering the inner corner of the eye)
• Low-set ears
• Micrognathia (small lower jaw)
• High-arched palate
• Growth delay
• Intellectual disability

Causes

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 the normal development of many parts of the body, leading to the signs and symptoms of Bohring-Opitz Syndrome.

Diagnosis

Diagnosis of Bohring-Opitz Syndrome is based on clinical features and confirmed by genetic testing to identify a mutation in the ASXL1 gene.

Treatment

There is currently no cure for Bohring-Opitz Syndrome. Treatment is supportive and based on the signs and symptoms present in each person. This may include physical therapy, speech therapy, and educational services.

See Also

• Genetic disorder
• ASXL1
• Microcephaly
• Proptosis
• Exophthalmos
• Strabismus
• Hypertelorism
• Epicanthus
• Low-set ears
• Micrognathia
• High-arched palate
• Growth delay
• Intellectual disability

External links

• Medical encyclopedia article on Bohring-Opitz syndrome
• Wikipedia's article - Bohring-Opitz syndrome

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