Syndromes such as Ichthyosis folliculareis–alopecia–photophobia (IFAP), X-linked dominant chondrodysplasia punctata (CDPX2) and Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD Syndrome) result from mutations in the MBTPS2, EBP and NSDHL genes, respectively. The gene discussed is EBP; the disease is X-linked dominant chondrodysplasia punctata.