What is Börjeson-Forssman-Lehman Syndrome

Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, physical abnormalities, and behavioral problems.

Intellectual disability: Individuals with BFLS typically have varying degrees of intellectual impairment, ranging from mild to severe. This can impact their learning abilities, language development, and overall cognitive functioning.

Physical abnormalities: Physical features associated with BFLS may include a large body size, obesity, distinctive facial characteristics, such as a prominent forehead and widely spaced eyes, as well as abnormalities in the hands and feet.

Behavioral problems: People with BFLS often exhibit behavioral issues, such as hyperactivity, impulsivity, aggression, and difficulties with social interactions.

BFLS is caused by mutations in the PHF6 gene, which plays a role in brain development and function. The syndrome is inherited in an X-linked pattern, meaning it primarily affects males while females can be carriers of the gene mutation.

While there is no cure for BFLS, treatment focuses on managing symptoms and providing support through therapies, educational interventions, and medications to address specific behavioral or medical issues.