Analysis of planar cell polarity genes in humans has revealed mutations in SCRIB and CELSR1 in craniorachischisis cases (Robinson et al., 2012), while mutations in VANGL1, VANGL2, CELSR1, and FZD6 have also been identified in spina bifida and anencephaly cases (Kibar et al., 2007; Kibar et al., 2009; Lei et al., 2010; Allache et al., 2012; De Marco et al., 2012). The gene discussed is CELSR1; the disease is craniorachischisis.