Ablepharon-macrostomia syndrome (AMS; MIM 200110) and Barber-Say syndrome (BBRSAY; MIM 209885) are clinically overlapping ectodermal dysplasias. AMS is characterized by absent eyelids, macrostomia, microtia, abnormally shaped ears and nose, absence of lanugo, redundant skin, and abnormalities of the nipples, genitalia, fingers, and hands. Typical findings in Barber-Say syndrome include ectropion, telecanthus, macrostomia, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, severe hypertrichosis, especially of the back, and redundant skin. Both conditions are caused by dominant mutations in the TWIST2 gene, which codes for twist-related protein 2.