Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenitalmalformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. We describe well-known animal models, human syndromes, and associations involving EA/TEF, indicating its etiologically heterogeneous nature. Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF.

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Keywords AEG syndrome, CHARGE syndrome, Congenital anomaly, Feingold syndrome, Foregut, Genes, VACTERL
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Journal Current Gastroenterology Reports (Print)
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de Jong, E.M, Felix, J.F, de Klein, J.E.M.M, & Tibboel, D. (2010). Etiology of esophageal atresia and tracheoesophageal fistula: "Mind the gap". Current Gastroenterology Reports (Print) (Vol. 12, pp. 215–222). doi:10.1007/s11894-010-0108-1