Living with Conductive deafness-malformed external ear syndrome
A very rare genetic condition from birth with hearing loss and differently shaped small ears, plus lip pits or dimples.
Understanding Conductive deafness-malformed external ear syndrome
People have mild to moderate hearing loss caused by problems in the outer and middle ear, along with lip pits or dimples. The outer ears are usually small and cup-shaped, with the top folded forward. Hearing loss goes with malformed middle ear bones and a displaced ear canal. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Conductive hearing loss
- Small, overfolded or low-set ears
- Differences in the middle ear bones
- High palate
- Developmental delay
- Lip pits or dimples
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 cause this condition, but doesn't list a specific gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: conductive hearing loss-malformed external ear syndrome; deafness, conductive, with malformed external ear; mengel-konigsmark 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 Conductive deafness-malformed external ear syndrome.
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