FGFR1, the fibroblast growth factor receptor 1 plays an important role in facial morphogenesis, and mutations in this gene lead to syndomes associated with facial abnormality, such as the type 1 Pfeiffer syndrome (MIM 101600) and Kallmann syndrome 2 (KAL2) (MIM 147950) [34]. The gene discussed is FGFR1; the disease is Pfeiffer syndrome type 1.