Borjeson-Forssman-Lehmann Syndrome (BFLS) is a rare and complex genetic condition that affects many parts of the body. It is characterized by intellectual disability, obesity, seizures, gynecomastia (enlarged breast tissue in males), hypogonadism (a condition in which the sex glands produce little or no hormones), and distinctive facial features. The syndrome is caused by mutations in the PHF6 gene and is inherited in an X-linked recessive pattern, meaning it predominantly affects males, while females can be carriers with mild or no symptoms.
Symptoms of Borjeson-Forssman-Lehmann Syndrome
The symptoms of Borjeson-Forssman-Lehmann Syndrome can vary widely among affected individuals, even within the same family. However, some common signs and symptoms have been identified, which include:
- Intellectual disability, ranging from mild to severe
- Obesity, particularly in the torso
- Seizures, which can be resistant to treatment
- Gynecomastia, which is more prevalent in adolescence and adulthood
- Hypogonadism, leading to underdeveloped genitals and infertility
- Distinctive facial features such as a round face, thick eyebrows, long eyelashes, and a prominent lower lip
- Delayed speech and motor skills development
- Behavioral problems such as aggression, anxiety, and social withdrawal
It is important to note that not all individuals with BFLS will have all these symptoms, and the severity can vary significantly.
Genetic Testing for Borjeson-Forssman-Lehmann Syndrome
Diagnosing Borjeson-Forssman-Lehmann Syndrome can be challenging due to the variability of symptoms. However, genetic testing offers a definitive diagnosis by identifying mutations in the PHF6 gene. DNA Labs UAE provides a comprehensive PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test that can confirm the diagnosis and assist in the management and treatment planning for individuals with BFLS.
The genetic test involves collecting a small sample of blood or saliva from the individual suspected of having BFLS. The sample is then analyzed in the laboratory to identify any mutations in the PHF6 gene. If a mutation is found, it confirms the diagnosis of Borjeson-Forssman-Lehmann Syndrome.
Cost of the Genetic Test
The cost of the PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This price includes the collection of the sample, the genetic analysis, and a comprehensive report detailing the findings. It’s important for patients and families to consider that the cost of genetic testing is an investment in understanding the condition better and paving the way for targeted treatments and management strategies.
Conclusion
Borjeson-Forssman-Lehmann Syndrome is a rare genetic disorder with a wide range of symptoms. Early diagnosis through genetic testing can be crucial in managing the condition effectively and improving the quality of life for those affected. DNA Labs UAE offers a specialized genetic test for BFLS, providing families with the answers they need to embark on a tailored management plan. For more information about the test and to schedule an appointment, visit DNA Labs UAE.
