Mutations in Heparan Sulfate 6-O-Sulfotransferase 1 (HS6ST1), Fibroblast Growth Factor Receptor 1 (FGFR1) and newly in Klotho Beta (KLB) have been found in a small number of kindreds of CHH patients and their relatives with DP (Tornberg et al., 2011; Pitteloud et al., 2006; Xu et al., ). Here, HS6ST1 is linked to cartilage-hair hypoplasia.