(16) (p.Cys409Tyr) presented with short stature (5th percentile), whereas others (several patients in this study and the patient reported by Matyas et al. [17]) presented with tall stature. TGFB3 mutations affecting residue Arg300 are associated with cleft palate and/or bifid uvula in our patients (Online Tables 3, 4, and 6) and in the patient reported by Matyas et al. (17). Our study confirms the association of TGFB3 mutation with overt cleft palate in humans and endorses its important role in palatogenesis. This evidence concerns the gene TGFB3 and cleft palate.