A deletion in chromosome 8q24.11 or 8q23.3-q24.13, which contains EXT1, but not TRPS1, also causes Langer-Giedion syndrome (Wuyts et al., 2002; McBrien et al., 2008; Pereza et al., 2012). Here, TRPS1 is linked to Langer-Giedion syndrome.