Graham–Boyle–Troxell syndrome
Graham–Boyle–Troxell syndrome is a rare genetic disorder characterized by a combination of medical and developmental issues. The syndrome was first described by the physicians Dr. Robert Graham, Dr. John Boyle, and Dr. James Troxell in the late 20th century.
Symptoms and Signs[edit | edit source]
The primary symptoms of Graham–Boyle–Troxell syndrome include intellectual disability, seizures, and distinctive facial features. These facial features often include a broad forehead, deep-set eyes, and a prominent nose. Some individuals with the syndrome may also have hearing loss and vision problems.
Causes[edit | edit source]
Graham–Boyle–Troxell syndrome is a genetic disorder, which means it is caused by changes (mutations) in one or more genes. However, the specific genes associated with this syndrome have not yet been identified. It is believed to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have mutations for an individual to be affected.
Diagnosis[edit | edit source]
Diagnosis of Graham–Boyle–Troxell syndrome is based on the presence of characteristic clinical features. Genetic testing may also be used to confirm the diagnosis, although the specific genes associated with this syndrome have not yet been identified.
Treatment[edit | edit source]
There is currently no cure for Graham–Boyle–Troxell syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to control seizures.
Prognosis[edit | edit source]
The prognosis for individuals with Graham–Boyle–Troxell syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications such as severe seizures or other health problems.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Graham–Boyle–Troxell syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
