Pathogenic variants in FGFR2 are associated with several autosomal dominant diseases characterised by overlapping clinical features, as Apert syndrome (MIM: #101200), Crouzon syndrome (MIM: #123500) and Saethre-Chotzen syndrome (MIM: #101400), that are collectively known as FGFR2-associated craniosynostoses. The gene discussed is FGFR2; the disease is Crouzon syndrome.