Genetic factors in congenital diaphragmatic hernia

Am J Hum Genet. 2007 May;80(5):825-45. doi: 10.1086/513442. Epub 2007 Apr 4.


Congenital diaphragmatic hernia (CDH) is a relatively common birth defect associated with high mortality and morbidity. Although the exact etiology of most cases of CDH remains unknown, there is a growing body of evidence that genetic factors play an important role in the development of CDH. In this review, we examine key findings that are likely to form the basis for future research in this field. Specific topics include a short overview of normal and abnormal diaphragm development, a discussion of syndromic forms of CDH, a detailed review of chromosomal regions recurrently altered in CDH, a description of the retinoid hypothesis of CDH, and evidence of the roles of specific genes in the development of CDH.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Animals
  • COUP Transcription Factor II / genetics
  • Chromosome Aberrations
  • DNA-Binding Proteins / genetics
  • Diaphragm / abnormalities
  • Diaphragm / embryology
  • GATA4 Transcription Factor / genetics
  • Genes, Wilms Tumor
  • Hernia, Diaphragmatic / embryology
  • Hernia, Diaphragmatic / genetics*
  • Hernia, Diaphragmatic / metabolism
  • Hernias, Diaphragmatic, Congenital*
  • Humans
  • Retinoids / metabolism
  • Signal Transduction
  • Syndrome
  • Transcription Factors / genetics


  • COUP Transcription Factor II
  • DNA-Binding Proteins
  • GATA4 Transcription Factor
  • GATA4 protein, human
  • NR2F2 protein, human
  • Retinoids
  • Transcription Factors
  • ZFPM2 protein, human

Associated data

  • OMIM/142340
  • OMIM/222400
  • OMIM/306950
  • OMIM/610187