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Pentalogy of Cantrell

Abstract

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NORD is very grateful to T. Andrew Burrow, MD, FAAP, FACMG, Assistant Professor of Clinical Pediatrics, Cincinnati Children's Hospital Medical Center, Division of Human Genetics, for assistance in the preparation of this report.

Synonyms of Pentalogy of Cantrell

  • Cantrell deformity
  • Cantrell pentalogy
  • Cantrell syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects 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. Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. When all five defects are present, this is referred to as complete pentalogy of Cantrell. The variability of the disorder from one individual to another can be significant. The exact cause of pentalogy of Cantrell is unknown. Most cases are believed to occur sporadically.

Organizations related to Pentalogy of Cantrell

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