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

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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.

The following information may help to address your question:


Is pentalogy of Cantrell inherited?

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).[1][2]

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.[3][1][2] 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.[2]
Last updated: 9/29/2014

How does pentalogy of Cantrell impact future pregnancies?

Because pentalogy of Cantrell is so rare and the underlying cause is unclear, the exact recurrence risk for the condition is not known. Most cases are sporadic, which means they occur in people with no family history of the condition and are not thought to be inherited. However, familial cases have been reported.

People with questions about familial recurrence of pentalogy of Cantrell in regards to themselves or family members should speak with a genetics professional.
Last updated: 9/29/2014

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 12/6/2017

How can I find an expert who has knowledge and experience regarding a specific condition?

Although there is no list of experts for rare diseases, a fact sheet is available on our Web site with tips for finding healthcare professionals and researchers who have experience with a particular condition. Potential resources include patient advocacy groups, researchers conducting clinical trials, and authors of articles published in medical journals. Click here to view our fact sheet. If you are unable to locate an expert using these suggestions, please let us know.
Last updated: 9/29/2014

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. 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.
  2. 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.
  3. 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.