Deafness-oligodontia syndrome

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ORPHA:3230OMIM:221740H90.3
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8Treatment centers

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Overview

Deafness-oligodontia syndrome is a very rare genetic condition that combines hearing loss with missing teeth. The name describes its two main features: deafness (significant hearing loss, usually affecting both ears) and oligodontia (a condition where a person is born missing six or more permanent teeth). The hearing loss in this syndrome is typically sensorineural, meaning it results from problems in the inner ear or the nerve pathways that carry sound signals to the brain, rather than from issues in the outer or middle ear. People with this syndrome are usually identified in childhood when hearing difficulties become apparent and when permanent teeth fail to develop as expected. The missing teeth can affect chewing, speech, and facial appearance. The severity of both the hearing loss and the number of missing teeth can vary from person to person, even within the same family. There is currently no cure for deafness-oligodontia syndrome. Treatment focuses on managing symptoms. Hearing aids or cochlear implants may help with hearing loss, while dental prosthetics such as dentures, bridges, or dental implants can replace missing teeth. Early intervention with speech therapy and audiological support is important to help children develop language skills. A team of specialists working together provides the best outcomes for affected individuals.

Also known as:

Key symptoms:

Hearing loss in both earsMissing multiple permanent teethDifficulty hearing speech or soundsDelayed speech developmentDifficulty chewing foodChanges in facial appearance due to missing teethPossible delayed language developmentGaps in the teeth where permanent teeth never grew in

Clinical phenotype terms (4)— hover any for plain English
Abnormality of the inner earHP:0000359
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Deafness-oligodontia syndrome.

View clinical trials →

No actively recruiting trials found for Deafness-oligodontia syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Deafness-oligodontia syndrome community →

No specialists are currently listed for Deafness-oligodontia syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Deafness-oligodontia syndrome.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

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 hearing devices would work best?,How many permanent teeth are missing, and what is the long-term dental treatment plan?,Should we pursue genetic testing, and what would the results mean for our family?,When should we start speech-language therapy, and how often should sessions occur?,At what age can dental implants be considered?,Are there any other health issues we should screen for in connection with this syndrome?,Can you refer us to a multidisciplinary team experienced with this condition?

Common questions about Deafness-oligodontia syndrome

What is Deafness-oligodontia syndrome?

Deafness-oligodontia syndrome is a very rare genetic condition that combines hearing loss with missing teeth. The name describes its two main features: deafness (significant hearing loss, usually affecting both ears) and oligodontia (a condition where a person is born missing six or more permanent teeth). The hearing loss in this syndrome is typically sensorineural, meaning it results from problems in the inner ear or the nerve pathways that carry sound signals to the brain, rather than from issues in the outer or middle ear. People with this syndrome are usually identified in childhood when

How is Deafness-oligodontia syndrome inherited?

Deafness-oligodontia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Deafness-oligodontia syndrome typically begin?

Typical onset of Deafness-oligodontia syndrome is childhood. Age of onset can vary across affected individuals.