Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) are severe congenital anomalies. Although recent years have brought significant improvement in clinical treatment, our understanding of the etiology of these defects is lagging. Many genes and genetic pathways have been implicated in the development of EA/TEF, but only a few genes have been shown to be involved in humans, in animals, or in both. Extrapolating data from animal models to humans is not always straightforward. Environmental factors may also carry a risk, but the mechanisms are yet to be elucidated. This review gives an overview of the current state of knowledge about both genetic and environmental risk factors in the etiology of EA/TEF.

Additional Metadata
Keywords Congenital anomalies, Esophageal atresia, Etiology, Tracheoesophageal fistula
Persistent URL dx.doi.org/10.1002/bdra.20592, hdl.handle.net/1765/26908
Citation
Felix, J.F, de Jong, E.M, Torfs, C.P, de Klein, J.E.M.M, Rottier, R, & Tibboel, D. (2009). Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: An overview of the current concepts. Birth Defects Research. Part A: Clinical and Molecular Teratology, 85(9), 747–754. doi:10.1002/bdra.20592