Living with Thickened earlobes-conductive deafness syndrome
A genetic condition with small, thick ears, a small lower jaw, and hearing loss from ear bone differences.
Understanding Thickened earlobes-conductive deafness syndrome
The hearing loss is conductive, which means sound does not pass well through the middle ear. It is due to differences in the tiny ear bones (ossicles) present from birth. The condition is autosomal dominant. Signs may be noticed at any time in life.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Small ears (microtia)
- Thick earlobes
- Small lower jaw (micrognathia)
- Hearing loss from ear bone differences (conductive hearing loss)
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
GARD says changes in genes (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: earlobes, thickened, with conductive deafness from incudostapedial abnormalities; escher-hirt syndrome; thickened earlobes-conductive hearing loss syndrome
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 Thickened earlobes-conductive deafness syndrome.
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