Pentalogy of Cantrell is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum. These defects are a cleft lower sternum, an anterior diaphragmatic defect, absence of the parietal pericardium, a connected or separate omphalocele, and a major cardiac anomaly, most often Tetralogy of Fallot and left ventricular diverticulum.
The syndrome has five characteristic findings:
- Omphalocele (abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall)
- Anterior diaphragmatic hernia (defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity)
- Sternal cleft
- Intracardiac defect: either a ventricular septal defect or a diverticulum of the left ventricle
- Ectopia cordis (birth defect in which the heart is abnormally located. In the most common form, the heart protrudes outside the chest through a split sternum. Less often the heart may be situated in the abdominal cavity or neck. Often other birth defects are also present. This condition is usually fatal in the first days of life. In some cases surgical treatment is possible. The ectopic heart is not protected by the skin or sternum. Other organs may also have formed outside the skin. Often the heart is not formed properly and many other heart defects are associated with this condition including: Tetralogy of Fallot, Pulmonary Atresia, Atrial and Ventricular Septal Defects, Double Outlet Right Ventricle. Other non cardiac malformations may be present such as cleft palates, and spine malformations.
For more information about Omphalocele, click here. For more information about Ectopia Cordis, click here.
Source: Wikipedia.com and WrongDiagnosis.com