Mutations within the fibroblast growth factor receptors (FGFR) 1 – 3 cause a wide range of skeletal disorders, including diseases primarily characterized by craniosynostosis such as osteoglophonic dysplasia (FGFR1, [73]), Apert (FGFR2, [74]), Crouzon (FGFR2, [75]), Pfeiffer (FGFR1 and FGFR2, [76]), Beare-Stevenson cutis grata (FGFR2, [77]) and Muenke (FGFR3, [78]) syndromes, in addition to the dwarfing syndromes ACH, hypochondroplasia and thanatophoric dysplasia (all FGFR3, [79]). The gene discussed is FGFR3; the disease is thanatophoric dysplasia.