Overview
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome is a very rare condition that affects multiple parts of the body from birth. It is sometimes referred to by its Orphanet code ORPHA:508476. This syndrome combines several features: a cleft lip and/or palate (a gap or split in the upper lip and the roof of the mouth), unusual facial features, a heart defect that is present at birth, and hearing loss. Because these problems appear together as a group, doctors call this a 'syndrome.' The cleft lip and palate can make feeding, speaking, and breathing more difficult for babies and young children. The heart defect varies from person to person and may range from mild to more serious, sometimes requiring surgery. Hearing loss can affect speech development and learning if not identified and treated early. The unusual facial features are typically noticed at birth or during a prenatal ultrasound. Treatment focuses on managing each feature separately. Surgical repair of the cleft lip and palate is usually done in stages during infancy and early childhood. Heart defects are evaluated by a pediatric cardiologist and treated based on their type and severity. Hearing aids or other devices can help with hearing loss. A team of specialists working together gives children the best chance at a good quality of life.
Also known as:
Key symptoms:
Cleft lip (a split or gap in the upper lip)Cleft palate (a gap in the roof of the mouth)Unusual facial features such as widely spaced eyes or a small jawHeart defect present from birthHearing loss (may be partial or complete)Feeding difficulties in infancySpeech and language delaysPossible breathing difficulties
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 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss 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 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome.
Community
No community posts yet. Be the first to share your experience with Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome.
Start the conversation →Latest news about Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
No recent news articles for Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss 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 specific heart defect does my child have, and what treatment does it need?,What type and degree of hearing loss is present, and what is the best hearing device for my child?,What is the surgical plan for the cleft lip and palate, and what should I expect at each stage?,Should we have genetic testing, and what might it tell us about the cause and recurrence risk?,What early therapies — such as speech therapy or feeding support — should we start right away?,Are there any activity restrictions because of the heart condition?,What signs or symptoms should prompt me to seek emergency care?
Common questions about Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
What is Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome?
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome is a very rare condition that affects multiple parts of the body from birth. It is sometimes referred to by its Orphanet code ORPHA:508476. This syndrome combines several features: a cleft lip and/or palate (a gap or split in the upper lip and the roof of the mouth), unusual facial features, a heart defect that is present at birth, and hearing loss. Because these problems appear together as a group, doctors call this a 'syndrome.' The cleft lip and palate can make feeding, speaking, and breathing more
At what age does Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome typically begin?
Typical onset of Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome is neonatal. Age of onset can vary across affected individuals.