Townes-Brocks syndrome (TBS) is a rare autosomal dominant disease. It has a prevalence of 1 in 250,000 (1). Clinical phenotype is variable, however the core triad of malformations in TBS are anorectal malformations, hand malformations and external ear malformations associated with deafness(1). Over 60 mutations have been found in the SALL1 gene(2). SALL1 is an essential organogenesis regulator in urological, renal, limb, ear, brain and liver development (1).