In diaphragmatic hernia, a defect exists in the diaphragm which permits abdominal organs to herniate into the thorax. Most cases diagnosed in the newborn consist of an open passage through the diaphragm. The main sign is dyspnea and cyanosis. The defect can be repaired surgically, but survival depends on the degree of pulmonary hypoplasia and on associated malformations.
Diaphragmatic hernia occurs at a rate of around 2 to 3 births in 10,000. Higher rates in some parts of the world may be partly dependent on the autopsy rate.