Living with Pentalogy of Cantrell
A condition present from birth with differences in the breastbone, diaphragm, belly wall, and heart.
Understanding Pentalogy of Cantrell
It can involve the breastbone (sternum), the diaphragm (the muscle that helps with breathing), the lining of the heart (pericardium), the belly wall, and the heart. Severity varies, and most babies don't have all of the differences. Most cases occur by chance, though some families have been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breastbone differences
- Hole in the diaphragm (diaphragmatic hernia)
- Belly wall opening (omphalocele)
- Heart differences, such as holes in the heart walls
- Differences in the heart lining
- Underdeveloped lungs
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 digestive system specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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 the exact cause is not known. Most cases occur by chance, but some families have been reported. GARD also lists X-linked inheritance.
Also known as: cantrell deformity; cantrell haller ravitsch syndrome; cantrell pentalogy; cantrell syndrome; thas; thoraco-abdominal 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 Pentalogy of Cantrell.
Explore research for Pentalogy of Cantrell
Explore actively recruiting Pentalogy of Cantrell studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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