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Pentalogy of Cantrell

ORPHA:1335· ICD-10 Q89.7

Definition

Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.

Prevalence
1-9 / 1 000 000
Inheritance
Not applicable
Age of onset
Antenatal, Neonatal