Living with Autosomal recessive nonsyndromic hearing loss 9
An inherited hearing condition caused by changes in the OTOF gene, with two forms.
Understanding Autosomal recessive nonsyndromic hearing loss 9
One form is present at birth with severe to profound deafness, which standard newborn hearing screening may not detect. In the other form, hearing is normal to moderately reduced at usual body temperature, but a slight rise in body temperature can cause a significant, temporary drop in hearing.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Severe to profound deafness at birth (one form)
- Normal to moderate hearing loss (other form)
- Hearing that gets worse during a fever or higher body temperature
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 changes in the otoferlin (OTOF) gene. It is autosomal recessive, so two changed copies of the gene are needed, one from each parent.
Also known as: auditory neuropathy, autosomal recessive, 1, temperature-sensitive; deafness, autosomal recessive 9; neurosensory nonsyndromic recessive deafness 9; otof-related hearing loss
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 recessive nonsyndromic hearing loss 9.
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