Living with Deafness-ear malformation-facial palsy syndrome
An inherited condition affecting hearing, the shape of the outer ear, and facial muscle movement.
Understanding Deafness-ear malformation-facial palsy syndrome
Hearing is affected because of differences in a small ear bone called the stapes. People may also have differences in how the outer ears look, and weakness or paralysis of facial muscles. It is passed from parent to child in an autosomal dominant pattern. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss (conductive)
- Differences in the stapes ear bone
- Abnormally shaped outer ears
- Small or missing earlobes
- Facial weakness or paralysis (facial palsy)
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 a change in a gene causes this condition, passed down in an autosomal dominant pattern. A changed copy of the gene from one parent can be enough.
Also known as: deafness, conductive stapedial, with ear malformation and facial palsy; hearing loss-ear malformation-facial palsy syndrome; sellars-beighton 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 Deafness-ear malformation-facial palsy syndrome.
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