Etiology of esophageal atresia and tracheoesophageal fistula: "Mind the gap"

Abstract

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. © The Author(s) 2010.