Clinical Reviews in Bone and Mineral Metabolism

, Volume 3, Issue 3, pp 183–188

The phenotype of fibrodysplasia ossificans progressiva

  • Frederick S. Kaplan
  • David L. Glaser
  • Eileen M. Shore
  • Gregory K. Deirmengian
  • Rishi Gupta
  • Patricia Delai
  • Rolf Morhart
  • Roger Smith
  • Martine Le Merrer
  • John G. Rogers
  • J. Michael Connor
  • Joseph A. Kitterman
Fibrodysplasia Ossificans Progressiva

DOI: 10.1385/BMM:3:3-4:183

Cite this article as:
Kaplan, F.S., Glaser, D.L., Shore, E.M. et al. Clinic Rev Bone Miner Metab (2005) 3: 183. doi:10.1385/BMM:3:3-4:183

Abstract

The phenotype of fibrodysplasia ossificans progressiva (FOP) includes two defining features: congenital malformation of the great toes and progressive heterotopic ossification in characteristic anatomic patterns. Additional common features include proximal medial tibial osteochondromas, orthotopic fusions of the posterior elements of the cervical spine, broad short femoral necks, and conductive hearing loss. The FOP phenotype supports that the primary molecular pathology involves the bone morphogenetic protein (BMP)-signaling pathway directly or a BMP-interacting pathway.

Key words

Fibrodysplasia ossificans progressiva (FOP)bone morphogenetic protein (BMP)-signaling pathwayheterotopic ossificationmalformed great toes

Copyright information

© Humana Press Inc. 2005

Authors and Affiliations

  • Frederick S. Kaplan
    • 11
    • 1
    • 3
  • David L. Glaser
    • 11
    • 3
  • Eileen M. Shore
    • 11
    • 1
    • 2
  • Gregory K. Deirmengian
    • 11
    • 3
  • Rishi Gupta
    • 11
    • 3
  • Patricia Delai
    • 4
  • Rolf Morhart
    • 5
  • Roger Smith
    • 6
  • Martine Le Merrer
    • 7
  • John G. Rogers
    • 8
  • J. Michael Connor
    • 9
  • Joseph A. Kitterman
    • 10
  1. 1.Department of MedicineThe University of Pennsylvania School of MedicinePhiladelphia
  2. 2.Department of GeneticsThe University of Pennsylvania School of MedicinePhiladelphia
  3. 3.The Center for Research in FOP and Related DisordersThe University of Pennsylvania School of MedicinePhiladelphia
  4. 4.The University of Santa Casa de Misericordia of São Paolo School of MedicineSão PaoloBrazil
  5. 5.KinderKlinik, Klinikum Garmisch-PanenKinchenGermany
  6. 6.Nuffield Orthopaedic CentreHeadingtonUK
  7. 7.Hôpital NeckerParisFrance
  8. 8.Royal Children's Hospital Genetics ClinicRoyal Children's HospitalMelbourneAustralia
  9. 9.Duncan Guthrie Institute of Medical GeneticsUniversity of Glasgow Medical SchoolGlasgowScotland
  10. 10.Department of Pediatrics and Cardiovascular Research InstituteUniversity of CaliforniaSan Francisco
  11. 11.Department of Orthopaedic SurgeryUniversity of Pennsylvania School of MedicinePhiladelphia