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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
The diagnosis of BFLS is based on the presence of characteristic clinical features and confirmed by genetic testing.
Treatment[edit | edit source]
There is currently no cure for BFLS. Treatment is supportive and based on the symptoms present in each individual.
Prognosis[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
Börjeson–Forssman–Lehmann syndrome Resources | ||
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