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). The gene discussed is SALL1; the disease is imperforate anus.