Lee, JSFitzGibbon, EJChen, YRKim, HJLustig, LRAkintoye, SOCollins, MTKaban, Leonard2013-03-112012Lee, J.S., E.J. FitzGibbon, Y.R. Chen, H.J. Kim, L.R. Lustig, S.O. Akintoye, M.T. Collins, and L.B. Kaban. 2012. Clinical guidelines for the management of craniofacial fibrous dysplasia. Orphanet Journal of Rare Diseases 7(Suppl 1.): S2.1750-1172http://nrs.harvard.edu/urn-3:HUL.InstRepos:10385400Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome). The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research.en-USJournal Article2013-03-1110.1186/1750-1172-7-S1-S2