Townes-Brocks Syndrome (TBS1 [MIM: 107480]) is an autosomal dominant genetic disease, caused by mutations in a transcription factor called SALL1, characterized by the presence of imperforate anus, dysplastic ears, thumb malformations and often renal and heart impairment, among other symptoms (Botzenhart et al., 2007; Kohlhase et al., 1998). This evidence concerns the gene SALL1 and Townes-Brocks syndrome.