Overview
Dysmorphism-conductive hearing loss-heart defect syndrome is an extremely rare genetic condition that affects multiple parts of the body at the same time. People with this syndrome are born with unusual facial features (called dysmorphism), hearing loss caused by problems in the outer or middle ear (called conductive hearing loss), and heart defects that are present from birth. The facial features may include differences in the shape of the eyes, nose, ears, or jaw. The heart defects can vary in type and severity, ranging from mild issues that may not need treatment to more serious problems that require surgery or close monitoring. Because this syndrome is so rare, there is very limited information available about it in the medical literature. It was first described in a small number of patients, and our understanding of the condition continues to grow. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. This may include hearing aids or surgery to improve hearing, heart surgery or medications for heart defects, and supportive therapies such as speech therapy. A team of specialists working together is important to provide the best care for affected individuals.
Key symptoms:
Unusual facial features present from birthHearing loss due to problems in the outer or middle earHeart defects present from birthDifferences in the shape or size of the earsDifferences in the shape of the eyes or eyelidsAbnormal nose shapeJaw or chin abnormalitiesPossible developmental delaysPossible growth differences
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 Dysmorphism-conductive hearing loss-heart defect syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Dysmorphism-conductive hearing loss-heart defect syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Dysmorphism-conductive hearing loss-heart defect 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 Dysmorphism-conductive hearing loss-heart defect syndrome.
Community
No community posts yet. Be the first to share your experience with Dysmorphism-conductive hearing loss-heart defect syndrome.
Start the conversation →Latest news about Dysmorphism-conductive hearing loss-heart defect syndrome
No recent news articles for Dysmorphism-conductive hearing loss-heart defect 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 type of heart defect does my child have, and how serious is it?,What kind of hearing loss is present, and what are the best treatment options?,Should we pursue genetic testing, and what might it tell us?,What specialists should we see regularly, and how often?,Are there any activity restrictions due to the heart defect?,What early intervention services should we start for speech and development?,Is there a risk that future children could have the same condition?
Common questions about Dysmorphism-conductive hearing loss-heart defect syndrome
What is Dysmorphism-conductive hearing loss-heart defect syndrome?
Dysmorphism-conductive hearing loss-heart defect syndrome is an extremely rare genetic condition that affects multiple parts of the body at the same time. People with this syndrome are born with unusual facial features (called dysmorphism), hearing loss caused by problems in the outer or middle ear (called conductive hearing loss), and heart defects that are present from birth. The facial features may include differences in the shape of the eyes, nose, ears, or jaw. The heart defects can vary in type and severity, ranging from mild issues that may not need treatment to more serious problems th
At what age does Dysmorphism-conductive hearing loss-heart defect syndrome typically begin?
Typical onset of Dysmorphism-conductive hearing loss-heart defect syndrome is neonatal. Age of onset can vary across affected individuals.