In addition to the two known OFC causative genes SATB2 and MEIS2, we identified other 12 genes, nine in deletions (FGF2, FRZB,LETM1, SPRY1, THBS1, TSHZ1, TTC28, WHSC1, WHSC2) and three in duplications (DGCR6, TULP4 and MAPK3), that have been previously proposed as orofacial development regulators or as potential causative genes for OFCs (Table 3; Supplementary Table 5). Here, NSD2 is linked to otofaciocervical syndrome 1.