Current Osteoporosis Reports

, Volume 14, Issue 5, pp 178–186 | Cite as

Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives

  • Cemre Robinson
  • Michael T. Collins
  • Alison M. BoyceEmail author
Epidemiology and Pathophysiology (J Cauley and B Dawson-Hughes, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Epidemiology and Pathophysiology


Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. In the skeleton, this leads to the development of FD lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. FD may occur in isolation or in combination with extraskeletal manifestations, including hyperfunctioning endocrinopathies and café-au-lait macules, termed McCune-Albright syndrome (MAS). This review summarizes current clinical and translational perspectives in FD/MAS, with an emphasis on FD pathogenesis, natural history, pre-clinical and clinical investigation, and future directions.


Fibrous dysplasia McCune-Albright syndrome GNAS gene Gsα FGF23 


Compliance with Ethical Standards

Conflict of Interest

Cemre Robinson, Michael T Collins, and Alison M Boyce declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human subjects performed by any of the authors.

With regard to the authors’ research cited in this paper, all institutional and national guidelines for the care and use of laboratory animals were followed.


This research was supported by the Intramural Research Program of the National Institute of Dental and Craniofacial Research


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media New York (outside the USA) 2016

Authors and Affiliations

  • Cemre Robinson
    • 1
  • Michael T. Collins
    • 1
  • Alison M. Boyce
    • 1
    • 2
    • 3
    Email author
  1. 1.Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial ResearchNational Institutes of HealthBethesdaUSA
  2. 2.Division of Endocrinology and DiabetesChildren’s National Health SystemWashingtonUSA
  3. 3.Bone Health Program, Division of Orthopaedics and Sports MedicineChildren’s National Health SystemWashingtonUSA

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