Although no WNT7A mutations were found in women bearing MDAs (Ravel et al., 2009; Timmreck et al., 2003; Dang et al., 2012), homozygous WNT7A mutations are the known underlying cause of Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (OMIM 276820; Box 1), which produces skeletal and Müllerian defects as well as occipital meningocele (Al-Qattan, 2013). This evidence concerns the gene WNT7A and phocomelia, Schinzel type.