In addition to Townes-Brocks syndrome, mutations in SALL1 cause bronchio-oto-renal syndrome (BOR). Thumb aplasia along with arthrogryposis was reported in a 42-year-old woman with Edwards-Klinefelter syndrome due to a double aneuploidy (48, XXY +18) [8]. Here, SALL1 is linked to Townes-Brocks syndrome.