Living with Branchiootic syndrome
A rare genetic syndrome with neck cysts or openings, ear differences, and hearing loss, but no kidney problems.
Understanding Branchiootic syndrome
Ear differences can involve the outer, middle, and inner ear. Examples are cupped ears, pits or tags in front of the ear, and differences in the middle and inner ear. There are no kidney differences. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss (conductive, sensorineural, or mixed)
- Neck openings (branchial fistula)
- Ear shape differences
- Pits in front of the ear
- Middle ear differences
- Inner ear differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bo syndrome; bor; branchio-otic syndrome; branchiootic dysplasia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Branchiootic syndrome.
Explore research for Branchiootic syndrome
Explore actively recruiting Branchiootic syndrome studies with HealthSpark.
Find actively recruiting studies for Branchiootic syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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