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Accumulating data suggest that FGFs/FGFR1 plays essential roles in the bone development and human skeletal diseases. Conditional inactivation of fgfr1 caused different phenotypes displaying in different cells or specific organs and revealed some novel functions of FGFR1 in bone development. Fgfr1 mutation mainly induced 2 types of human skeletal diseases, craniosynostosis syndrome and dysplasias.Similar mutation of fgfr1 in mouse model just mimicked the phenotype that happened in human. These facilitate the investigation on the underlying mechanism of the diseases. Here we mainly focused on the advance of FGFR1 function in the bone development and its mutation caused skeletal diseases.