Overview
Conductive deafness-malformed external ear syndrome is a rare genetic condition in which a person is born with abnormally shaped outer ears and hearing loss caused by problems with how sound is conducted through the ear. The condition is also sometimes referred to as conductive hearing loss with malformed external ear. Because the outer ear and the structures of the middle ear do not form properly during development, sound waves cannot travel normally to the inner ear, leading to conductive hearing loss that can range from mild to severe. The malformations of the external ear can vary widely. Some individuals may have small or unusually shaped ears (microtia), while others may have narrowing or absence of the ear canal (atresia). These structural differences are usually visible at birth. Hearing loss may affect one or both ears. In some cases, other facial or skeletal features may also be involved. Treatment focuses on improving hearing and addressing the structural abnormalities. Hearing aids, particularly bone-conduction hearing devices, can help bypass the blocked or malformed ear canal and improve hearing significantly. Surgical reconstruction of the outer ear may be considered for cosmetic and functional reasons, and in some cases surgery to open or widen the ear canal (canaloplasty) may be performed. Early intervention with hearing support is important for speech and language development in children. A team of specialists typically works together to manage the condition over time.
Key symptoms:
Hearing loss present from birthAbnormally shaped outer earsSmall or underdeveloped ears (microtia)Narrowed or absent ear canalDifficulty hearing conversations, especially in noisy settingsDelayed speech and language development in childrenAsymmetric ear appearance (one ear may be more affected than the other)Possible middle ear bone abnormalitiesCosmetic concerns related to ear shape
Clinical phenotype terms (13)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Conductive deafness-malformed external ear syndrome.
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Specialists
View all specialists →No specialists are currently listed for Conductive deafness-malformed external ear 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 Conductive deafness-malformed external ear syndrome.
Community
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Caregiver Resources
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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.How severe is my child's hearing loss, and is it in one or both ears?,What type of hearing device would work best for my child's specific ear anatomy?,Is ear reconstruction surgery recommended, and at what age should it be considered?,Should we pursue genetic testing to understand the cause and check for related conditions?,What speech and language support services should we start, and how soon?,Are there any other health concerns we should screen for alongside the ear problems?,How often should hearing be re-evaluated as my child grows?
Common questions about Conductive deafness-malformed external ear syndrome
What is Conductive deafness-malformed external ear syndrome?
Conductive deafness-malformed external ear syndrome is a rare genetic condition in which a person is born with abnormally shaped outer ears and hearing loss caused by problems with how sound is conducted through the ear. The condition is also sometimes referred to as conductive hearing loss with malformed external ear. Because the outer ear and the structures of the middle ear do not form properly during development, sound waves cannot travel normally to the inner ear, leading to conductive hearing loss that can range from mild to severe. The malformations of the external ear can vary widely.
How is Conductive deafness-malformed external ear syndrome inherited?
Conductive deafness-malformed external ear syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Conductive deafness-malformed external ear syndrome typically begin?
Typical onset of Conductive deafness-malformed external ear syndrome is neonatal. Age of onset can vary across affected individuals.