Living with X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
A rare genetic condition with hearing loss from birth, closed or narrow ear canals, and distinct facial features, with normal intelligence.
Understanding X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Features include a widened inner ear canal, differently shaped ears, thick eyebrows, drooping eyelids, a broad nasal root, and wide-set eyes. GARD says intelligence is normal and there is no developmental delay.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from birth
- Closed ear canal (atresia)
- Narrow ear canal
- Drooping upper eyelid
- Thick eyebrows
- 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 GPRASP2 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
This condition is caused by changes in the GPRASP2 gene and follows X-linked inheritance.
Also known as: deafness, x-linked 7; dfnx7
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 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome.
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