Overview
Deafness-onychodystrophy syndrome, also known as DDOD syndrome (dominant deafness-onychodystrophy), is an extremely rare genetic condition that affects hearing and nail development. People with this syndrome are born with or develop significant hearing loss (sensorineural deafness), along with abnormal nails (onychodystrophy). The nail changes can include small, poorly formed, thickened, or absent nails on the fingers and toes. Some individuals may also have other features such as changes in the teeth or mild bone abnormalities in the fingers. The hearing loss in this condition is typically present from birth or early childhood and can range from moderate to severe. It affects the inner ear (sensorineural type), meaning the nerve pathways that carry sound signals to the brain are not working properly. The nail abnormalities are usually noticeable at birth or in early infancy. There is currently no cure for deafness-onychodystrophy syndrome. Treatment focuses on managing symptoms. Hearing aids or cochlear implants may help with hearing loss. Nail care and protection can help manage the nail problems. Early intervention with speech therapy and educational support is important for children with significant hearing loss to help with language development and communication skills. A team of specialists typically works together to provide the best care for affected individuals.
Also known as:
Key symptoms:
Hearing loss present from birth or early childhoodAbnormal or poorly formed fingernailsAbnormal or poorly formed toenailsSmall or absent nailsThickened or ridged nailsBrittle nails that break easilyPossible mild changes in finger bonesPossible dental abnormalities
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 Deafness-onychodystrophy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Deafness-onychodystrophy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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-onychodystrophy syndrome.
Community
No community posts yet. Be the first to share your experience with Deafness-onychodystrophy syndrome.
Start the conversation →Latest news about Deafness-onychodystrophy syndrome
No recent news articles for Deafness-onychodystrophy syndrome.
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.What degree of hearing loss does my child have, and what type of hearing device would be most helpful?,Should we consider cochlear implants, and if so, when is the best time?,What speech and language therapy services do you recommend?,Is genetic testing available to confirm the diagnosis or identify the specific gene involved?,What is the chance of passing this condition to future children?,Are there any other health problems we should watch for with this syndrome?,What educational accommodations should we request for school?
Common questions about Deafness-onychodystrophy syndrome
What is Deafness-onychodystrophy syndrome?
Deafness-onychodystrophy syndrome, also known as DDOD syndrome (dominant deafness-onychodystrophy), is an extremely rare genetic condition that affects hearing and nail development. People with this syndrome are born with or develop significant hearing loss (sensorineural deafness), along with abnormal nails (onychodystrophy). The nail changes can include small, poorly formed, thickened, or absent nails on the fingers and toes. Some individuals may also have other features such as changes in the teeth or mild bone abnormalities in the fingers. The hearing loss in this condition is typically p
How is Deafness-onychodystrophy syndrome inherited?
Deafness-onychodystrophy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Deafness-onychodystrophy syndrome typically begin?
Typical onset of Deafness-onychodystrophy syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Deafness-onychodystrophy syndrome?
11 specialists and care centers treating Deafness-onychodystrophy syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.