Börjeson–Forssman–Lehmann syndrome

Börjeson–Forssman–Lehmann syndrome (BFLS) is a rare X-linked genetic disorder that affects males more severely than females. It is characterized by intellectual disability, obesity, hypogonadism, and distinctive facial features.

Signs and Symptoms

BFLS is characterized by a range of symptoms, including intellectual disability, obesity, hypogonadism, and distinctive facial features. Other symptoms may include epilepsy, hearing loss, and behavioral problems.

Causes

BFLS is caused by mutations in the PHF6 gene, which is located on the X chromosome. This gene is involved in the regulation of cell division and DNA repair.

Diagnosis

The diagnosis of BFLS is based on the presence of characteristic clinical features and confirmed by genetic testing.

Treatment

There is currently no cure for BFLS. Treatment is supportive and based on the symptoms present in each individual.

Prognosis

The prognosis for individuals with BFLS varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See Also

• Genetic disorder
• X-linked genetic disorders
• Intellectual disability
• Obesity
• Hypogonadism

External Links

• WikiMD: Börjeson–Forssman–Lehmann syndrome

Börjeson–Forssman–Lehmann syndrome Resources
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