Even though all the ACH patients reported here presented similar craniofacial features (frontal bossing, macrocephaly, maxillary retrusion, deep nasal root, and prognathism) [3, 4, 34], we observed three grades of facial phenotype severity – ‘mild’, ‘moderate’ or ‘severe’ –, suggesting a phenotypic disparity in a genetic disease due in > 95% to a same G380R FGFR3 mutation. This evidence concerns the gene FGFR3 and achondroplasia.