Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.
It was characterized in 1958.
A locus at Xq25-26 has been described.
The syndrome has five characteristic findings:
- Anterior diaphragmatic hernia
- Sternal cleft
- Ectopia cordis
- Intracardiac defect: either a ventricular septal defect or a diverticulum of the left ventricle.