: MeSH: Pentalogy of Cantrell

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Pentalogy of Cantrell

Nervous System Diseases > Nervous System Malformations > Neural Tube Defects > Pentalogy of Cantrell

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Neural Tube Defects > Pentalogy of Cantrell

Pentalogy of Cantrell

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Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome.

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