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Genetic and Rare Diseases Information Center (GARD)

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Pentalogy of Cantrell

Other Names for this Disease
  • Cantrell deformity
  • Cantrell Haller Ravitsch syndrome
  • Cantrell pentalogy
  • Cantrell syndrome
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Your Question

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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is pentalogy of Cantrell?

Pentalogy of Cantrell is a condition in which a person typically has two or three of the following birth defects, with very few people having all five findings: (1) a deficiency of the front part of the diaphragm (the thin layer of muscle underneath the lungs involved in breathing); (2) a defect of the middle part of the abdomen above the belly button; (3) a defect in the pericardium (the outer layer) of the diaphragm; (4) various congenital (present at birth) heart abnormalities; and (5) a defect of the lower part of the sternum (breastbone). The condition is believed to be caused by a failure in development that occurs when the fetus is about 14-18 days old. Treatment is based on the symptoms present in the person.[1]
Last updated: 5/27/2009

Has it been determined that pentalogy of Cantrell is genetic?

Pentalogy of Cantrell is primarily thought to be a sporadic defect affecting males and females equally. However, some have suggested that pentalogy of Cantrell is genetic and inherited.[2]    
Last updated: 5/27/2009

Is pentalogy of Cantrell X-linked?

It has been suggested by some that the inheritance pattern for defects like pentalogy of Cantrell is X-linked.[2]
Last updated: 5/27/2009

Are male children at a greater risk than female children of having pentalogy of Cantrell?

According to the medical literature, males and females are affected in equal numbers, suggesting that neither sex is at an increased risk over the other.[2]
Last updated: 5/27/2009

How does pentalogy of Cantrell impact future siblings?

To determine whether future siblings of a child with pentalogy of Cantrell are at an increased risk over the general population of having the same defect, we recommend you schedule a genetics consultation. Genetics clinics are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.

Last updated: 5/27/2009

  • 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;
  • Bianchi DW, Crombleholme TM, D'Alton ME. Fetology . McGraw-Hill Companies; 2000;