Hypotrichosis is observed in other conditions associated with deficiencies of cholesterol synthesis enzymes, including Greenberg dysplasia, SC4MOL deficiency, X-linked dominant chondrodysplasia punctata-2 (CDPX2), and congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome [13–17]. Here, MSMO1 is linked to X-linked dominant chondrodysplasia punctata.