Borjeson Forssman Lehmann Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Borjeson Forssman Lehmann Syndrome?
A primary care doctor often helps coordinate care, because treatment usually involves specialists such as a geneticist and a neurologist. A direct primary care or concierge doctor can manage routine health needs and refer the patient to the right specialist when needed.
What it is
Borjeson Forssman Lehmann syndrome is a rare condition that a person is born with, caused by a change in a gene. It affects how the body and brain develop. Most people with this syndrome have intellectual disability and certain physical features that doctors can recognize.
Symptoms
The signs can vary a lot from one person to another. Common features include intellectual disability, seizures, weak muscles, and distinctive facial features such as narrow eyes and large ears. Other possible problems include trouble seeing, trouble hearing, and differences in the genitals in boys.
Causes and who gets it
This syndrome happens because of a change in a gene called PHF6, found on the X chromosome, so it mostly affects boys. Girls who carry the changed gene usually have milder symptoms. In most cases the gene change is new, but some families do pass it on.
How doctors diagnose it
Doctors often start by looking at a person's symptoms, growth pattern, and physical features. If they suspect this syndrome, they may order a genetic test to confirm whether the PHF6 gene is changed. Early diagnosis helps families get the right support sooner.
Treatment
There is no cure, and treatment focuses on managing each person's symptoms. Seizures are often treated with medicines. Physical therapy can help with weak muscles, speech therapy can help with communication, and special education services can support learning. Regular checkups help doctors manage new issues.
When to see a doctor
Parents should talk to a doctor if a child is not growing or developing as expected, has unexplained seizures, or has unusual physical features along with learning delays. It is also wise to seek care if a person with the syndrome has a change in seizure pattern or new health problems.
Common questions
Can Borjeson Forssman Lehmann syndrome be cured?
No, there is no cure, because the condition comes from a change in a person's genes. Treatment can ease symptoms and help people learn and function better. How much a person improves varies from person to person.
How long do people with this syndrome live?
Life expectancy depends on how severe the symptoms are and how well related health problems are managed. Some people live into adulthood. A doctor who knows the person's full health history can give the best guidance.
Can girls have this syndrome?
Yes, but it is rare and usually much milder in girls. Girls have two X chromosomes, so a working copy of the gene often protects them. Some girls who carry the changed gene have only subtle signs.
Should other family members be tested?
It can be helpful, especially if a parent carries the changed gene. A genetic counselor can help families decide. This is a trained expert who explains genetic risks. Testing plans depend on each family's situation.
Sources
- NIH Genetic and Rare Diseases Information Center - Borjeson-Forssman-Lehmann syndrome
- National Organization for Rare Disorders (NORD) - Börjeson-Forssman-Lehman Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
