Autosomal dominant TBS1 is characterized by the triad of imperforate anus or anal stenosis in 84%, dysplastic ears in 87%, and thumb malformations in 89%, and is caused by variants in the SALL1 (spalt like transcription factor 1) gene (Kohlhase et al. 1998; Kohlhase 2007). This evidence concerns the gene SALL1 and isolated anorectal malformation.