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]. Here, TWIST2 is linked to focal facial dermal dysplasia.