Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):158-71. doi: 10.1002/ajmg.c.30126.


Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Cardiovascular Abnormalities / complications
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 15
  • Congenital Abnormalities / epidemiology
  • Family Health
  • Hernia, Diaphragmatic* / epidemiology
  • Hernia, Diaphragmatic* / genetics
  • Hernia, Diaphragmatic* / mortality
  • Humans
  • Meta-Analysis as Topic
  • Prevalence