Clinical guidelines for the management of craniofacial fibrous dysplasia

Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S2. doi: 10.1186/1750-1172-7-S1-S2. Epub 2012 May 24.


Fibrous 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.

Publication types

  • Practice Guideline
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acromegaly / pathology
  • Adolescent
  • Child
  • Diphosphonates / therapeutic use
  • Disease Progression
  • Female
  • Fibrous Dysplasia of Bone / diagnosis
  • Fibrous Dysplasia of Bone / drug therapy*
  • Fibrous Dysplasia of Bone / pathology
  • Humans
  • Paranasal Sinuses / pathology
  • Patient Care Management / methods*
  • Tomography, X-Ray Computed / methods
  • Tooth Diseases / pathology


  • Diphosphonates

Supplementary concepts

  • Growth hormone excess