Genetic factors in congenital diaphragmatic hernia

Ashley M. Holder, M. Klaassens, D. Tibboel, A. De Klein, Brendan Lee, D. A. Scott

Research output: Contribution to journalReview articlepeer-review

176 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)825-845
Number of pages21
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - May 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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