Devriendt et al. (1999), Becker et al. (2003), Innis et al. (2002), Utsch et al. (2002), and Frisén et al. (2003) have described numerouscases of this condition in members of single families and isolated individuals.Imagawa et al. (2014)described a novel HOXA 13 mutation in a patient with severe HFGS; Wallis et al. (2016) describedother de novo mutations in HOXA13 and NRXN1 deletion in an atypical case of HFGSwith developmental delay. This evidence concerns the gene HOXA13 and hand-foot-genital syndrome.