Overview
Björnstad syndrome is a very rare inherited condition that affects two main parts of the body: the hair and the inner ear. The most noticeable sign is a hair abnormality called pili torti, where the hair shafts are twisted and flattened, making the hair brittle, dull, and easy to break. Along with this unusual hair texture, people with Björnstad syndrome also experience sensorineural hearing loss, which means the nerves or structures inside the ear that carry sound signals to the brain are damaged. This type of hearing loss is present from birth or develops in early childhood and can range from mild to severe. The condition is caused by changes (mutations) in a gene called BCS1L, which plays an important role in how cells produce energy. When this gene does not work properly, it affects tissues that need a lot of energy, like hair follicles and the hearing structures in the inner ear. In more severe cases involving the same gene, a related condition called GRACILE syndrome can occur, but Björnstad syndrome is generally considered the milder end of this spectrum. There is currently no cure for Björnstad syndrome. Treatment focuses on managing symptoms — hearing aids or cochlear implants can help with hearing loss, and gentle hair care can reduce breakage. With proper support, many people with this condition can lead full and active lives. Early diagnosis is important so that hearing support can be put in place before it affects speech and language development.
Also known as:
Key symptoms:
Brittle, twisted, and easily broken hair (pili torti)Dull or sparse hair that may appear flattenedSensorineural hearing loss (nerve-related hearing loss)Hearing loss present from birth or early childhoodHair that may be lighter in color than expectedDifficulty hearing speech clearly, especially in noisy environmentsDelayed speech and language development due to hearing loss
Clinical phenotype terms (12)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Björnstad syndrome.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Björnstad syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type and degree of hearing loss does my child have, and what hearing devices are best for them?,Should we do genetic testing for other family members, including siblings?,What hearing and speech support should be arranged at school?,Will the hearing loss get worse over time, and how often should we have hearing tests?,Are there any other health problems we should watch for with this condition?,What hair care routine do you recommend to reduce breakage?,Are there any clinical trials or research studies we could participate in?
Common questions about Björnstad syndrome
What is Björnstad syndrome?
Björnstad syndrome is a very rare inherited condition that affects two main parts of the body: the hair and the inner ear. The most noticeable sign is a hair abnormality called pili torti, where the hair shafts are twisted and flattened, making the hair brittle, dull, and easy to break. Along with this unusual hair texture, people with Björnstad syndrome also experience sensorineural hearing loss, which means the nerves or structures inside the ear that carry sound signals to the brain are damaged. This type of hearing loss is present from birth or develops in early childhood and can range fro
How is Björnstad syndrome inherited?
Björnstad syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Björnstad syndrome typically begin?
Typical onset of Björnstad syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat Björnstad syndrome?
10 specialists and care centers treating Björnstad syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.