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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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Overview

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

References

  1. 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;
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • 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.
Other Names for this Disease
  • Cantrell deformity
  • Cantrell Haller Ravitsch syndrome
  • Cantrell pentalogy
  • Cantrell syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.