Overview
Branchiogenic deafness syndrome, also known as branchio-otic-renal (BOR) syndrome or branchio-otic (BO) syndrome, is a rare inherited condition that affects the development of structures in the head and neck, as well as the ears and kidneys. The name comes from the branchial arches — tissue structures that form during early fetal development and eventually become parts of the face, neck, and ears. When these structures do not develop properly, it can lead to a combination of hearing loss, small pits or cysts in the neck, and problems with the outer, middle, or inner ear. The most noticeable features include hearing loss (which can range from mild to profound), small skin tags or pits near the ears or along the sides of the neck, and abnormally shaped ears. Some people also have kidney problems, which can vary from minor differences in kidney shape to more serious kidney function issues. Not everyone with this condition has all of these features — symptoms can vary widely even within the same family. There is currently no cure for branchiogenic deafness syndrome, but many of the symptoms can be managed effectively. Hearing aids or cochlear implants can greatly improve hearing. Cysts or skin tags in the neck may be surgically removed if they cause problems. Kidney health is monitored regularly by a specialist. With proper care and support, many people with this condition lead full and active lives.
Key symptoms:
Hearing loss (ranging from mild to profound, affecting one or both ears)Small pits or holes in the skin near the ears (preauricular pits)Small skin tags near the ears or along the sides of the neckCysts or lumps along the sides of the neck (branchial cysts)Abnormally shaped or positioned outer earsProblems with the ear canal or middle ear bonesAbnormal inner ear structure (such as an enlarged vestibular aqueduct)Kidney abnormalities (such as missing, duplicated, or malformed kidneys)Reduced kidney function in some casesRinging in the ears (tinnitus)Balance problems in some individuals
Clinical phenotype terms (21)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Branchiogenic deafness syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Branchiogenic deafness syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Branchiogenic 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 Branchiogenic deafness syndrome.
Community
No community posts yet. Be the first to share your experience with Branchiogenic deafness syndrome.
Start the conversation →Latest news about Branchiogenic deafness syndrome
1 articlesCaregiver 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.Which genes should be tested, and what does a positive or negative result mean for my family?,How often should my hearing and kidney function be checked, and what warning signs should I watch for?,Would my child benefit from a cochlear implant, and how do we decide between a hearing aid and an implant?,Should other family members be tested, and what are the chances my children will inherit this condition?,Are there any neck cysts or pits that need to be removed, and when is the right time to do that?,What support services are available for hearing loss at school or work?,Is there a specialist center or patient registry I should be connected with?
Common questions about Branchiogenic deafness syndrome
What is Branchiogenic deafness syndrome?
Branchiogenic deafness syndrome, also known as branchio-otic-renal (BOR) syndrome or branchio-otic (BO) syndrome, is a rare inherited condition that affects the development of structures in the head and neck, as well as the ears and kidneys. The name comes from the branchial arches — tissue structures that form during early fetal development and eventually become parts of the face, neck, and ears. When these structures do not develop properly, it can lead to a combination of hearing loss, small pits or cysts in the neck, and problems with the outer, middle, or inner ear. The most noticeable f
How is Branchiogenic deafness syndrome inherited?
Branchiogenic deafness syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Branchiogenic deafness syndrome typically begin?
Typical onset of Branchiogenic deafness syndrome is neonatal. Age of onset can vary across affected individuals.