TWIST2 loss-of-function variants in humans cause several complex malformation disorders: ablepharon-macrostomia syndrome (AMS, MIM 200110), Barber-Say syndrome (BSS, MIM 209885) and Setleis syndrome or focal facial dermal dysplasia type III (FFDD3, MIM 227260), all being ectodermal dysplasias with complex facial malformations [29–31]. This evidence concerns the gene TWIST2 and Barber-Say syndrome.