Overview
Otomandibular dysplasia is a very rare condition that affects the development of the ears and the lower jaw (mandible). The name comes from 'oto' meaning ear and 'mandibular' referring to the jawbone. People born with this condition may have underdeveloped or absent ears (microtia or anotia), a small or malformed lower jaw (micrognathia or mandibular hypoplasia), and hearing loss. The condition is present at birth and can range from mild to severe. In some cases, it may overlap with or be related to other conditions affecting the first and second branchial arches, which are the structures in the developing embryo that form the jaw, ears, and surrounding facial tissues. Because the condition affects the jaw and ears, children may have difficulty with feeding, breathing, hearing, and speech development. Treatment is supportive and depends on the specific features present in each individual. Surgical reconstruction of the ear and jaw may be considered, and hearing aids or other hearing devices can help with hearing loss. A team of specialists including craniofacial surgeons, ear-nose-throat doctors, audiologists, and speech therapists typically work together to manage the condition. Early intervention is important to support hearing, feeding, and overall development. Because this condition is so rare, each patient's care plan is highly individualized.
Key symptoms:
Small or absent outer earsUnderdeveloped lower jawHearing lossAsymmetry of the faceDifficulty feeding as a newbornBreathing difficulties due to small jawAbnormal ear canal (narrow or absent)Speech and language delaysDental problems or misaligned teethPossible cheekbone underdevelopment
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 Otomandibular dysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Otomandibular dysplasia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Otomandibular dysplasia.
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 Otomandibular dysplasia.
Community
No community posts yet. Be the first to share your experience with Otomandibular dysplasia.
Start the conversation →Latest news about Otomandibular dysplasia
No recent news articles for Otomandibular dysplasia.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 condition, and what specific structures are affected?,What type and degree of hearing loss does my child have, and what hearing devices are recommended?,What surgeries will my child likely need, and at what ages are they typically performed?,Should we pursue genetic testing to look for an underlying cause or related conditions?,What early intervention services should we start, such as speech therapy or feeding support?,Are there any breathing or airway concerns we should watch for?,Can you refer us to a multidisciplinary craniofacial team for coordinated care?
Common questions about Otomandibular dysplasia
What is Otomandibular dysplasia?
Otomandibular dysplasia is a very rare condition that affects the development of the ears and the lower jaw (mandible). The name comes from 'oto' meaning ear and 'mandibular' referring to the jawbone. People born with this condition may have underdeveloped or absent ears (microtia or anotia), a small or malformed lower jaw (micrognathia or mandibular hypoplasia), and hearing loss. The condition is present at birth and can range from mild to severe. In some cases, it may overlap with or be related to other conditions affecting the first and second branchial arches, which are the structures in t
At what age does Otomandibular dysplasia typically begin?
Typical onset of Otomandibular dysplasia is neonatal. Age of onset can vary across affected individuals.