Overview
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome is an extremely rare condition that affects multiple parts of the body at the same time, starting before birth. The name describes the main features: an omphalocele (where some of the baby's abdominal organs push out through the belly button area, covered by a thin sac), a diaphragmatic hernia (a hole or weakness in the muscle that separates the chest from the abdomen, allowing stomach organs to move into the chest), heart and blood vessel defects, and problems with the bones of the forearm and thumb (called radial ray defects). This combination of birth differences is present from the time of birth, making it a congenital syndrome. Because so many vital organs are affected at once, babies born with this condition face serious medical challenges right away. The diaphragmatic hernia can make it very hard to breathe, and the heart defects can affect how well blood is pumped around the body. The omphalocele requires careful surgical management. The arm and thumb differences can affect how a child uses their hands. Treatment focuses on surgery and supportive care for each affected organ system, and a team of specialists is needed from the very beginning. Because this syndrome is so rare, most of what is known comes from a very small number of reported cases, and research is still ongoing.
Also known as:
Key symptoms:
Omphalocele — abdominal organs protruding through the belly button area, covered by a thin sacDiaphragmatic hernia — a gap in the muscle between the chest and abdomen, allowing stomach organs into the chestHeart defects present from birthBlood vessel abnormalitiesUnderdeveloped or absent radius bone in the forearmAbsent or underdeveloped thumbBreathing difficulties due to lung compressionFeeding difficulties in early lifePossible kidney or urinary tract abnormalitiesLow birth weight or growth concerns
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray 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 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome.
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 is the most urgent medical issue my child needs treated first, and what is the surgical plan?,Has genetic testing been done to find a cause, and what does that mean for future pregnancies?,Which specialists will be involved in my child's care, and how will they coordinate?,What are the signs that my child is having a breathing or heart emergency, and what should I do?,What therapies or support services are available to help with my child's arm and hand development?,What does long-term follow-up look like, and what should we watch for as my child grows?,Are there any research studies or patient registries we can join to help advance understanding of this condition?
Common questions about Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
What is Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome?
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome is an extremely rare condition that affects multiple parts of the body at the same time, starting before birth. The name describes the main features: an omphalocele (where some of the baby's abdominal organs push out through the belly button area, covered by a thin sac), a diaphragmatic hernia (a hole or weakness in the muscle that separates the chest from the abdomen, allowing stomach organs to move into the chest), heart and blood vessel defects, and problems with the bones of the forearm and thumb (called r
How is Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome inherited?
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome typically begin?
Typical onset of Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome is neonatal. Age of onset can vary across affected individuals.