Living with Autosomal dominant nonsyndromic hearing loss 23
An inherited form of hearing loss linked to changes in the SIX1 gene.
Understanding Autosomal dominant nonsyndromic hearing loss 23
This is a form of hearing loss that runs in families without other major syndrome features. GARD lists conductive hearing loss, which means sound has trouble passing through the outer or middle ear, as the most common symptom.
Signs & symptoms
Symptoms vary from person to person. GARD lists this as the most common:
- Conductive hearing loss
- Pit in front of the ear (less common)
- Inner ear hearing loss (sensorineural, less common)
- Urine flowing backward to the kidneys (less common)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
It is caused by a change (mutation) in the SIX1 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: dfna23 nonsyndromic hearing loss and deafness
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 Autosomal dominant nonsyndromic hearing loss 23.
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