Congenital diaphragmatic hernia
Other Names for this Disease
- Congenital diaphragmatic defect
- Unilateral agenesis of diaphragm
- Agenesis of hemidiaphragm
- Diaphragmatic agenesia
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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. 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)
Last updated: 11/27/2012
- Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman. Congenital Diaphragmatic Hernia Overview. GeneReviews. March 16, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1359/. Accessed 11/27/2012.