Bjornstad Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Bjornstad Syndrome?
A primary care doctor, such as a family doctor or pediatrician, is usually the first to notice the signs and start the evaluation. Patients are usually referred to an audiologist for hearing tests and may also see an ear, nose, and throat doctor, called an otolaryngologist. A geneticist may also be involved.
What it is
Bjornstad syndrome is a very rare condition that people are born with. It affects the hair and the hearing. The hair problem is called pili torti, which means the hair shafts are twisted; because the hair is weak, it breaks easily and looks brittle, short, and sparse. The hearing loss is called sensorineural hearing loss, which comes from the inner ear or the hearing nerve.
Symptoms
The main signs are brittle, twisted hair that breaks easily, and hearing loss that usually starts in childhood and can get worse over time. The amount of hearing loss varies from person to person.
Causes and who gets it
Bjornstad syndrome is caused by changes in a gene called BCS1L. It is inherited when both parents carry the changed gene and pass it on, even though they usually have no symptoms. It affects boys and girls alike.
How doctors diagnose it
Doctors look at the hair under a microscope to check for twisted shafts of pili torti. Hearing tests measure how much hearing is affected. Genetic testing can confirm the diagnosis.
Treatment
There is no cure, but treatment can help with symptoms. Hearing aids can improve hearing, and cochlear implants may help with severe hearing loss. Gentle hair care can reduce breakage, and regular hearing tests track changes over time.
When to see a doctor
Talk to a doctor if a child has hair that is unusually brittle, thin, or breaks easily, especially if there is any concern about hearing. Early hearing checks matter because finding hearing loss early helps children get support during the years when language skills develop. Families with a history of the syndrome may want to ask about genetic counseling.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid with a flat monthly fee instead of insurance billing; a concierge doctor works similarly but usually costs more and often works alongside insurance. These doctors have fewer patients and longer visits, so they can track hearing changes, arrange hearing tests, and coordinate care with specialists. They would refer the patient to an audiologist, an ear, nose, and throat doctor, or a geneticist for hearing devices, implant evaluations, and genetic testing.
Common questions
Is Bjornstad syndrome life threatening?
No. The condition mainly affects the hair and hearing. Most people do not have problems with other organs.
Can the hair grow back normally?
The hair usually stays brittle because of the way the shafts form. Gentle care can reduce breakage, but there is no known treatment that makes the hair normal.
Will my child lose all hearing?
Hearing loss often gets worse over time, but the amount differs from person to person. Regular hearing tests help track changes and guide choices about hearing aids or implants.
How is it different from other hair conditions?
Many conditions can cause brittle hair. Bjornstad syndrome is the combination of twisted hair shafts plus inner ear hearing loss, confirmed with genetic testing.
Sources
- NIH Genetic and Rare Diseases Information Center - Pili torti-deafness syndrome
- MedlinePlus Genetics - Björnstad 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.
