Overview
Deafness-ear malformation-facial palsy syndrome is an extremely rare condition present from birth that combines hearing loss, abnormally shaped ears, and weakness or paralysis of the facial nerve (facial palsy). This syndrome belongs to a group of conditions where multiple parts of the head and face develop differently during pregnancy. Affected individuals typically have structural problems with the outer ear (such as small, misshapen, or absent ears), which may also involve the middle and inner ear. The hearing loss can range from moderate to severe and may affect one or both ears. Facial palsy means that the muscles on one or both sides of the face do not move normally, which can affect facial expressions, eating, and eye closure. Because this syndrome is so rare, the medical understanding of it is limited. Treatment is supportive and focuses on managing each symptom individually. Hearing aids or cochlear implants may help with hearing loss. Surgery may be considered for ear reconstruction or to address structural problems. Physical therapy and sometimes surgical procedures can help with facial nerve weakness. Early intervention with speech therapy and hearing support is important for children to develop communication skills. A team of specialists working together provides the best care for affected individuals.
Key symptoms:
Hearing loss (partial or complete deafness)Abnormally shaped or small earsFacial nerve weakness or paralysis on one or both sidesDifficulty closing one or both eyes fullyAsymmetric facial expressionsDifficulty with feeding or swallowing in infancyAbsent or underdeveloped ear canalSpeech and language delaysDrooling due to weak facial musclesPossible middle ear bone abnormalities
Clinical phenotype terms (8)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Deafness-ear malformation-facial palsy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Deafness-ear malformation-facial palsy syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Deafness-ear malformation-facial palsy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type and degree of hearing loss does my child have, and what are the best hearing device options?,Is my child a candidate for cochlear implantation or bone-anchored hearing aids?,What can be done to improve or manage the facial nerve weakness?,Should we pursue genetic testing, and what might it tell us about recurrence risk in future pregnancies?,What early intervention services should we start right away?,Are there surgical options for ear reconstruction, and when is the best age to consider them?,How should we protect the eye on the affected side from drying out?
Common questions about Deafness-ear malformation-facial palsy syndrome
What is Deafness-ear malformation-facial palsy syndrome?
Deafness-ear malformation-facial palsy syndrome is an extremely rare condition present from birth that combines hearing loss, abnormally shaped ears, and weakness or paralysis of the facial nerve (facial palsy). This syndrome belongs to a group of conditions where multiple parts of the head and face develop differently during pregnancy. Affected individuals typically have structural problems with the outer ear (such as small, misshapen, or absent ears), which may also involve the middle and inner ear. The hearing loss can range from moderate to severe and may affect one or both ears. Facial pa
At what age does Deafness-ear malformation-facial palsy syndrome typically begin?
Typical onset of Deafness-ear malformation-facial palsy syndrome is neonatal. Age of onset can vary across affected individuals.