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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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Overview

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

References

  1. Frédéric Bargy. Congenital diaphragmatic hernia. Orphanet. February 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2140. Accessed 11/27/2012.
  2. Congenital diaphragmatic hernia. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia. Accessed 11/27/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Congenital diaphragmatic hernia. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

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  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital diaphragmatic hernia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Agenesis of hemidiaphragm
  • CDH
  • Congenital diaphragmatic defect
  • Unilateral agenesis of diaphragm
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.