SHOX gene mutations have previously been described as causes of Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), idiopathic short stature (ISS), and its haploinsufficiency is described as the cause of growth restriction in Turner syndrome (TS) (Belin et al., 1998; Rao et al., 1997; Benito-Sanz et al., 2005; Benito-Sanz et al., 2006; Benito-Sanz et al., 2011; Hirschfeldova et al., 2012; Zinn et al., 2002; Campos-Barros et al., 2007; Rappold et al., 2002). This evidence concerns the gene SHOX and Timothy syndrome.