Overview
Hypotrichosis-deafness syndrome is an extremely rare genetic condition that combines two main features: hypotrichosis (unusually sparse or thin hair) and sensorineural hearing loss (deafness caused by problems in the inner ear or hearing nerve). People with this syndrome are typically born with very little hair or develop noticeably thin, sparse hair during early childhood. The hearing loss can range from moderate to severe and affects both ears. It is sometimes also referred to as hypotrichosis-sensorineural hearing loss syndrome. The condition is present from birth or becomes apparent in early infancy. The hair abnormality affects the scalp and may also involve eyebrows, eyelashes, and body hair. The hearing loss is sensorineural in nature, meaning it originates from the inner ear (cochlea) or the auditory nerve rather than from problems in the outer or middle ear. There is currently no cure for hypotrichosis-deafness syndrome. Treatment focuses on managing symptoms. Hearing aids or cochlear implants can help improve hearing ability. Wigs or hairpieces may be used for cosmetic purposes if hair loss is significant. Early intervention with speech therapy and audiology services is important for children to support language development. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Very thin or sparse scalp hair from birthHearing loss in both earsReduced or absent eyebrowsReduced or absent eyelashesSparse body hairDifficulty hearing speech, especially in noisy environmentsDelayed speech development in children due to hearing lossFine, brittle hair that breaks easily
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hypotrichosis-deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hypotrichosis-deafness syndrome.
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 Hypotrichosis-deafness syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 is the severity of my child's hearing loss, and will it get worse over time?,Would hearing aids or cochlear implants be the best option for my child?,Are there any treatments that could help with hair growth?,Should we pursue genetic testing to confirm the diagnosis and identify the specific gene involved?,What early intervention services should we start for speech and language development?,Is there a risk that future children could also have this condition?,Are there any clinical trials or research studies we could participate in?
Common questions about Hypotrichosis-deafness syndrome
What is Hypotrichosis-deafness syndrome?
Hypotrichosis-deafness syndrome is an extremely rare genetic condition that combines two main features: hypotrichosis (unusually sparse or thin hair) and sensorineural hearing loss (deafness caused by problems in the inner ear or hearing nerve). People with this syndrome are typically born with very little hair or develop noticeably thin, sparse hair during early childhood. The hearing loss can range from moderate to severe and affects both ears. It is sometimes also referred to as hypotrichosis-sensorineural hearing loss syndrome. The condition is present from birth or becomes apparent in ea
How is Hypotrichosis-deafness syndrome inherited?
Hypotrichosis-deafness syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypotrichosis-deafness syndrome typically begin?
Typical onset of Hypotrichosis-deafness syndrome is neonatal. Age of onset can vary across affected individuals.