What causes a congenital diaphragmatic hernia?

Dr. Jeanne Morrison, PhD
Family Practitioner
In the great majority of cases, the cause of a congenital diaphragmatic hernia (CDH) is unknown. This birth defect is rarely passed from parents to children. Sometimes, CDH is due to a sporadic (new) gene mutation or chromosome abnormality that occurs during development. The CDH may be one part of a recognized genetic syndrome, occurring along with other developmental problems, such as heart or spinal defects. However, more than 80% of children with CDH don't have a known gene or chromosome abnormality.
About 50-60% of children with CDH have no other major birth defects. Among this group, the chance that a sibling will also have a CDH is only about 2%.
Researchers increasingly believe that CDH occurs when a child with a genetic predisposition is exposed to some environmental trigger early in fetal development. These environmental factors aren't yet understood. Animal studies have suggested that certain drugs, herbicides and heavy metals can cause CDH. Another theory is that vitamin A deficiency may play a role. But all of these theories are unproven.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.