Subsequently most mutations identified in the human FGFR2 gene localize to just two exons, encoding the third immunoglobulin-like domain in the extracellular region, resulting in syndromic craniosynostosis including Apert, Crouzon and Pfeiffer syndromes (OMIM 101600) [28]. The gene discussed is FGFR2; the disease is craniosynostosis.