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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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What is congenital diaphragmatic hernia?

What causes congenital diaphragmatic hernia?

What is congenital diaphragmatic hernia?

Congenital diaphragmatic hernia (CDH) is the lack of development before birth of all or part of the diaphragm, which normally separates the organs in the abdomen from those in the chest cavity.[1][2] It can range in severity from a thinned area in the diaphragm to its complete absence.[2] CDH may allow the stomach and intestines to move into the chest cavity, crowding the heart and lungs. This can then lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially causing life-threatening complications.[2] CDH has many different causes and occurs with other malformations in some cases.[1][2] Treatment options depend on the severity of the defect.
Last updated: 11/27/2012

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.[3] 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)[3]

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

Last updated: 11/27/2012

  1. Frédéric Bargy. Congenital diaphragmatic hernia. Orphanet. February 2009; Accessed 11/27/2012.
  2. Congenital diaphragmatic hernia. Genetics Home Reference. January 2011; Accessed 11/27/2012.
  3. Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman. Congenital Diaphragmatic Hernia Overview. GeneReviews. March 16, 2010; Accessed 11/27/2012.