This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Congenital diaphragmatic hernia (CDH) is a condition present before birth characterized by abnormal development of the diaphragm. The diaphragm normally separates the organs in the abdomen from those in the chest. The severity of CDH may range from a thinned area in part of the diaphragm, to its complete absence. CDH may allow the stomach and intestines to move through an opening (hernia) into the chest cavity, crowding the heart and lungs. This can then lead to underdevelopment of the lungs (pulmonary hypoplasia), which may cause life-threatening complications. CDH may be associated with several syndromes (some caused by genetic mutations or a chromosome abnormality), it may be associated with other birth defects, or it may occur with no other abnormalities. It is rarely inherited. Treatment options depend on the type and severity of the defect and typically include surgery. Prenatal diagnosis and medical advances have increased the survival rate, but various long-term complications affecting health and development may occur.
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