Living with Deafness with labyrinthine aplasia, microtia, and microdontia
A genetic condition affecting ear and tooth development, with deafness from birth.
Understanding Deafness with labyrinthine aplasia, microtia, and microdontia
The inner ear structures are usually completely absent, causing deafness from birth. Because the inner ear helps with balance, babies may be slower to sit and crawl. People often have small outer ears with narrow ear canals and small, widely spaced teeth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from birth
- Absent inner ear (aplasia)
- Small outer ears (microtia)
- Small, widely spaced teeth (microdontia)
- Small lower jaw (micrognathia)
- Wide nasal bridge
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.
- 3Consider genetic testing
Changes in FGF3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the FGF3 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: congenital deafness with inner ear agenesis, microtia, and microdontia; congenital deafness with labyrinthine aplasia, microtia and microdontia; deafness with lamm; deafness, congenital with inner ear agenesis, microtia, and microdontia; deafness, congenital, with labyrinthine aplasia, microtia, and microdontia; hearing loss with labyrinthine aplasia, microtia, and microdontia
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 Deafness with labyrinthine aplasia, microtia, and microdontia.
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