What is the prevalence of Börjeson-Forssman-Lehman Syndrome?
How many people does Börjeson-Forssman-Lehman Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Börjeson-Forssman-Lehman Syndrome is a rare genetic disorder characterized by intellectual disability, physical abnormalities, and behavioral issues. It primarily affects males, with an estimated prevalence of approximately 1 in 1 million individuals. Due to its rarity, the syndrome is considered to be extremely uncommon. Symptoms can vary widely among affected individuals, making diagnosis challenging. Genetic testing is typically required to confirm the presence of mutations in the PHF6 gene, which is associated with this syndrome. Early intervention and supportive care are crucial in managing the condition and improving the quality of life for those affected.
Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare genetic disorder characterized by intellectual disability, physical abnormalities, and behavioral problems. It primarily affects males, although a few cases have been reported in females. Due to its rarity, the exact prevalence of BFLS is not well-established.
Research suggests that BFLS may be underdiagnosed, making it difficult to determine its true prevalence. However, it is estimated to occur in approximately 1 in 1 million individuals. The syndrome is caused by mutations in the PHF6 gene, which plays a role in brain development and function.
Individuals with BFLS typically exhibit moderate to severe intellectual disability, delayed speech and language development, and distinctive physical features such as a prominent forehead, wide-set eyes, and large ears. They may also experience behavioral issues, including hyperactivity, impulsivity, and aggressive behavior.
While there is currently no cure for BFLS, management focuses on addressing the individual's specific symptoms and providing supportive care. Early intervention and specialized educational programs can help improve the quality of life for individuals with BFLS and their families.
