National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pentalogy of Cantrell


Other Names:
Cantrell pentalogy; Cantrell Haller Ravitsch syndrome; Cantrell syndrome; Cantrell pentalogy; Cantrell Haller Ravitsch syndrome; Cantrell syndrome; Cantrell deformity; Thoraco-abdominal syndrome See More
Categories:
Pentalogy of Cantrell is a condition characterized by a combination of midline birth defects that can potentially involve the breastbone (sternum); the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm); the thin membrane that lines the heart (pericardium); the abdominal wall; and the heart.[1] It can have varying degrees of severity, and can be lethal. Most affected infants do not have all potential defects (incomplete pentalogy of Cantrell). The exact cause of the condition is not known.[1] Most cases occur sporadically, but familial cases have been reported.[2] Treatment is based on the symptoms present in each affected person.[3]
Last updated: 9/29/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pericardium morphology 0001697
Abnormality of the sternum
Sternal anomalies
0000766
Congenital diaphragmatic hernia 0000776
Omphalocele 0001539
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
30%-79% of people have these symptoms
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
5%-29% of people have these symptoms
Abnormality of tibia morphology
Abnormality of the shankbone
Abnormality of the shinbone
[ more ] 		0002992
Absent gallbladder 0011467
Anencephaly 0002323
Aplasia/Hypoplasia of the radius 0006501
Cleft palate
Cleft roof of mouth
0000175
Encephalocele 0002084
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypospadias 0000047
Non-midline cleft lip 0100335
Polysplenia
Multiple small spleens
0001748
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Renal dysplasia 0000110
Scoliosis 0002650
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] 		0001171
Talipes 0001883
Tetralogy of Fallot 0001636
Percent of people who have these symptoms is not available through HPO
Cleft upper lip
Harelip
0000204
Cystic hygroma 0000476
Ectopia cordis 0001683
Patent ductus arteriosus 0001643
Transposition of the great arteries 0001669
Ventral hernia 0002933
X-linked inheritance 0001417
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Last updated: 7/1/2020
The underlying cause of pentalogy of Cantrell is not known, and the involvement of genetic factors is unclear. It usually occurs sporadically, not having been inherited, in infants with no family history of the condition.

A genetic component has been considered due to a few reports of familial cases. It has been reported in male siblings (suggesting X-linked recessive inheritance) as well as in a mother and 2 daughters (suggesting some type of dominant inheritance).[4][5]

Pentalogy of Cantrell has also been reported in association with the chromosome abnormalities trisomy 18, trisomy 13, and Turner syndrome, which usually occur by chance.[6][4][5] There have also been reports of people with both pentalogy of Cantrell and Goltz–Gorlin syndrome (also called focal dermal hypoplasia), which is inherited in an X-linked dominant manner.[5]
Last updated: 9/29/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes limb body wall complex, omphalocele (see these terms), thoracic EC and amniotic bands (see this term).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Pentalogy of Cantrell. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pentalogy of Cantrell. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My sister recently lost her unborn baby due to the baby having pentalogy of Cantrell. She was told by physicians here in the Philippines to get genetic counseling with regards to possible future pregnancies. I was wondering if there is a genetic counseling specialist on that disease that may help her and her husband. They are flying to the United States so can see someone there if possible. Any help would be appreciated. Thank you very much. See answer

  • I am a layperson and many articles I have seen are geared toward those with medical backgrounds.  Has it been determined that pentalogy of Cantrell is genetic?  Is it X-linked?  Does this mean that male children are at risk?  And how does this impact future siblings? See answer


  1. Pentalogy of Cantrell. NORD. January 28, 2014; http://rarediseases.org/rare-disease-information/rare-diseases/byID/939/viewAbstract. Accessed 9/29/2014.
  2. Cantrell pentalogy. Orphanet. May, 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335. Accessed 9/29/2014.
  3. van Hoorn JHL, Moonen RMJ, Huysentruyt CJR, van Heurn LWE, Offermans JPM, Twan Mulder ALM. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008;
  4. Meeker TM. Pentalogy of Cantrell: reviewing the syndrome with a case report and nursing implications. J Perinat Neonatal Nurs. April-June, 2009; 23(2):186-194. Accessed 9/29/2014.
  5. Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Am J Med Genet A. May, 2011; 155A(5):1102-1105. Accessed 9/29/2014.
  6. Singh N, Bera ML, Sachdev MS, Aggarwal N, Joshi R, Kohli V. Pentalogy of Cantrell with left ventricular diverticulum: a case report and review of literature. Congenit Heart Dis. September-October, 2010; 5(5):454-457. Accessed 9/29/2014.