Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare genetic disorder that affects multiple body systems. It is not contagious as it is caused by a mutation in a specific gene. BFLS is inherited in an X-linked recessive manner, meaning it primarily affects males. It is characterized by intellectual disability, physical abnormalities, and behavioral issues. If you suspect someone has BFLS, it is important to consult with a medical professional for a proper diagnosis and management.
Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, physical abnormalities, and behavioral issues. BFLS is caused by mutations in the PHF6 gene, which is located on the X chromosome.
It is important to note that BFLS is not contagious. It is an inherited condition that is passed down from parents to their children. The syndrome follows an X-linked pattern of inheritance, meaning that the mutated gene is located on the X chromosome. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. Therefore, males are more commonly affected by BFLS.
The symptoms of BFLS can vary widely among individuals, but commonly include intellectual disability, delayed speech and language development, low muscle tone, obesity, distinctive facial features, and behavioral problems such as hyperactivity and aggression. While there is no cure for BFLS, treatment focuses on managing the symptoms and providing support to individuals and their families.
If you suspect that you or someone you know may have BFLS, it is important to consult with a healthcare professional or a genetic counselor for a proper diagnosis and guidance on managing the condition.