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Genetic and Rare Diseases Information Center (GARD)

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Congenital diaphragmatic hernia

Other Names for this Disease
  • Agenesis of hemidiaphragm
  • CDH
  • Congenital diaphragmatic defect
  • Unilateral agenesis of diaphragm
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Your Question

What environmental factors can cause this? Could it be a toxin breathed in during pregnancy or something you ate or drank?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes congenital diaphragmatic hernia?

Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings.[1] Currently, about 15%-20% of individuals with CDH have an identifiable cause for their diaphragm defect. These individuals are classified as having syndromic CDH either resulting from a recognized chromosome abnormality or as a single gene disorder. In the remaining 80%-85% of individuals with CDH, the cause is not known. Potential causes in these individuals may include:
  • a currently undetectable chromosomal microdeletion (tiny loss of genetic material) or microduplication (an extra copy of genetic material)
  • a mutation in a major gene important for diaphragm development
  • combined effects of multiple minor genetic mutations or variants (polygenic inheritance)
  • effects of gene-environment interactions (multifactorial inheritance)
  • effects of non-genetic factors (e.g. epigenetic or teratogenic)[1]

GeneReviews has more detailed information about causes of CDH; this information can be viewed by clicking here.

Last updated: 11/27/2012

Can an environmental exposure during pregnancy cause congenital diaphragmatic hernia?

No cases of congenital diaphragmatic hernia (CDH) in humans have been unequivocally proven to be caused by teratogens or environmental exposures. A potential association between one syndromic case of CDH (associated with Fryns syndrome-like phenotype) and the immunosuppressive drug mycophenolate mofetil (MMF) has been reported. MMF may also be associated with diaphragmatic hernia in developing rabbits. The mechanism by which MMF could cause a diaphragmatic defect is not known. One retrospective questionnaire study has also reported an association of CDH with maternal alcohol use.[1]

Retinoic acid and vitamin A are known to affect many aspects of development, but their potential involvement in cases of isolated CDH is unclear. One small study showed decreased levels of retinol in newborns with CDH compared to controls, but larger ongoing studies are needed to determine the extent of this association.[1]
Last updated: 11/27/2012