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The development of the blood brain barrier likely around 12\u201318 weeks of human gestation makes the developing embryonic\/fetal brain dependent on endogenous cholesterol synthesis. Known enzyme defects along the cholesterol biosynthetic pathway result in a host of neurodevelopmental and behavioral findings along with CNS structural anomalies. In this article, we review sterol synthesis disorders in the pre\u2010 and post\u2010squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith\u2010Lemli\u2010Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper\u2010immunoglobulinemia D and periodic fever syndrome (HIDS), Antley\u2010Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1), congenital hemidysplasia with icthyosiform nevus and limb defects (CHILD) syndrome, CK syndrome, sterol C4 methyl oxidase (SC4MOL) deficiency, X\u2010linked dominant chondrodysplasia punctata 2(CDPX2)\/ Conradi Hunermann syndrome, lathosterolosis and desmosterolosis, We also discuss current controversies and share thoughts on future directions in the field. \u00a9 2013 Wiley Periodicals, Inc. 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