Multiple studies in the literature have identified a variety of genetic mechanisms such as aneuploidies (trisomy 18), chromosomal microdeletion or microduplication syndromes (22q11.2 deletion syndrome), and a variety of single gene disorders (CHD7, SOX2, FANCB, MYCN, TCF4, NRXN1) that lead to the development of EA/TEF [11,12]. The gene discussed is SOX2; the disease is esophageal atresia/tracheoesophageal fistula.