HYBRID EVENT: You can participate in person at Orlando, Florida, USA or Virtually from your home or work.
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disorder primarily affecting males, characterized by intellectual disability, physical abnormalities, and distinctive facial features. It is caused by mutations in the PHF6 gene located on the X chromosome. The syndrome manifests differently in each individual, but common features include developmental delays, speech and motor skill impairments, obesity, and epilepsy. Individuals with BFLS often exhibit distinct physical characteristics such as a prominent forehead, a broad nasal bridge, large ears, and a wide mouth with a thick lower lip. Behavioral issues, such as hyperactivity and social difficulties, may also be present. Diagnosis typically involves a thorough clinical evaluation, genetic testing, and assessment of the characteristic symptoms. Management of BFLS involves a multidisciplinary approach focusing on addressing the specific needs of the individual, including educational support, speech and occupational therapy, behavioral interventions, and medications to manage seizures or other associated medical conditions. As BFLS is a rare condition, ongoing research aims to further understand its complexities and develop more targeted treatments to improve the quality of life for those affected.
