Trueb–Burg–Bottani syndrome

Trueb–Burg–Bottani syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. The syndrome was first described by Swiss pediatricians L. Trueb, A. Burg, and A. Bottani in 1999.

Symptoms and Signs

The symptoms of Trueb–Burg–Bottani syndrome can vary greatly among affected individuals. Common features include intellectual disability, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a broad forehead, deep-set eyes, and a prominent nose. Some individuals may also have congenital heart defects, seizures, and abnormalities of the skin, hair, and nails.

Causes

Trueb–Burg–Bottani syndrome is caused by mutations in a gene that has not yet been identified. It is thought to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of Trueb–Burg–Bottani syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis, although the specific gene associated with this syndrome has not yet been identified.

Treatment

There is currently no cure for Trueb–Burg–Bottani syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms.

Prognosis

The prognosis for individuals with Trueb–Burg–Bottani syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with this syndrome can lead fulfilling lives.

See Also

• List of genetic disorders
• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Hypotonia

NIH genetic and rare disease info

• NIH info on Trueb–Burg–Bottani syndrome

Trueb–Burg–Bottani syndrome is a rare disease.

Trueb–Burg–Bottani syndrome Resources
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