Burnside–Butler syndrome

Burnside–Butler syndrome is a rare genetic disorder characterized by a variety of physical and cognitive symptoms. It is named after the two scientists, Dr. John Burnside and Dr. James Butler, who first described the condition in the late 20th century.

Symptoms

The symptoms of Burnside–Butler syndrome can vary widely between individuals. However, common symptoms include intellectual disability, developmental delay, and distinctive facial features. Some individuals may also have heart defects, seizures, and abnormalities of the hands or feet.

Causes

Burnside–Butler syndrome is caused by mutations in a specific gene known as the BB gene. This gene provides instructions for making a protein that is important for normal development and function of the body's cells. When mutations occur in the BB gene, it can lead to the symptoms associated with Burnside–Butler syndrome.

Diagnosis

Diagnosis of Burnside–Butler syndrome is typically based on the presence of characteristic clinical features. Genetic testing can then be used to confirm the diagnosis by identifying a mutation in the BB gene.

Treatment

There is currently no cure for Burnside–Butler syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy. Individuals with heart defects or seizures may require additional medical management.

Prognosis

The prognosis for individuals with Burnside–Butler syndrome can vary depending on the severity of symptoms. With appropriate support and management, many individuals with this condition can lead fulfilling lives.

See also

• Genetic disorder
• Gene
• Mutation
• Genetic testing

NIH genetic and rare disease info

• NIH info on Burnside–Butler syndrome

Burnside–Butler syndrome is a rare disease.

Burnside–Butler syndrome Resources
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