Within this deleted region, several candidate genes, including NSD2 (WHSC1) [5, 6], NELFA (WHSC2) [7], LETM1 [8, 9], FGFR3 [10], and FGFRL1 [11], have been implicated in the pathogenesis of WHS [12]; however, critical genes responsible for the major features of WHS remain to be definitively identified. The gene discussed is NELFA; the disease is Wolf-Hirschhorn syndrome.