Living with Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
A rare condition affecting babies before birth, with a belly wall opening, a diaphragm hole, heart differences, and hand differences.
Understanding Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Babies have an omphalocele, a large belly opening that lets the liver and small intestine stick out. They may have a hole in the diaphragm (diaphragmatic hernia), heart problems such as a narrow aorta, and missing or fused fingers. Facial differences and missing arteries or organs can also occur. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Belly wall opening (omphalocele)
- Hole in the diaphragm (diaphragmatic hernia)
- Heart differences, such as a narrow aorta
- Missing or fused fingers
- Unusual facial features
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: gershoni-baruch syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome.
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