Activating germline variants in FGFR2 have been linked to several autosomal dominantly inherited congenital malformation syndromes such as Apert syndrome (MIM 101200), Crouzon syndrome (MIM 123500), Jackson–Weiss syndrome (MIM 123150), and Pfeiffer syndrome (MIM 101600). The gene discussed is FGFR2; the disease is Pfeiffer syndrome.