SNX6, a member sorting nexin family, has not been definitively linked to craniofacial disorders, however multiple studies have suggested it as a candidate gene for holoprosencephaly, the most common developmental field defect in patterning of the human prosencephalon and associated craniofacial structures (Kamnasaran et al., 2005; Segawa et al., 2007). Here, SNX6 is linked to holoprosencephaly.