Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability syndrome caused by mutations in the PHF6 gene located on chromosome Xq26.2. The condition primarily affects males, though carrier females may show variable and generally milder features. BFLS is characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, obesity (particularly truncal), short stature, and distinctive facial features including coarse facies, prominent supraorbital ridges, deep-set eyes, and large ears. Affected individuals typically have microcephaly and may exhibit tapering fingers, short toes, and gynecomastia. Hypotonia is frequently present in infancy, and developmental milestones are significantly delayed. The syndrome affects multiple body systems including the central nervous system (intellectual disability, seizures), the endocrine system (hypogonadism, obesity), and the musculoskeletal system (skeletal anomalies, short stature). Visual impairment, including cataracts and nystagmus, has also been reported in some patients. Behavioral features may include autistic traits and mood disturbances. There is currently no cure or disease-specific treatment for Borjeson-Forssman-Lehmann syndrome. Management is supportive and symptomatic, focusing on seizure control with antiepileptic medications, hormonal therapy for hypogonadism, educational support and speech therapy for intellectual disability, and weight management strategies for obesity. Early intervention programs, physical therapy, and occupational therapy are recommended to optimize developmental outcomes. Regular monitoring by a multidisciplinary team including neurologists, endocrinologists, ophthalmologists, and developmental specialists is important for comprehensive care.

Common questions about Borjeson-Forssman-Lehmann syndrome