Skip to main content

Fibrodysplasia Ossificans Progressiva

  • Reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling
  • 132 Accesses

Abstract

Fibrodysplasia ossificans progressiva (FOP), an extremely rare and catastrophic genetic disorder of progressive heterotopic ossification, is the most disabling condition of extraskeletal ossification known to mankind. It is also known as myositis ossificans progressiva. The incidence of FOP was estimated to be approximately 1 in 1.64 million (Connor and Evans 1982b).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

Similar content being viewed by others

References

  • Al-Salmi, I., Raniga, S., & Al-Hadidi, A. (2014). Fibrodysplasia ossificans progressiva – Radiological findings: A case report. Oman Medical Journal, 29, 368–370.

    Article  PubMed  PubMed Central  Google Scholar 

  • Blaszczyk, M., Majewski, S., Brzezinska-Wcislo, L., et al. (2003). Fibrodysplasia ossificans progressiva. European Journal of Dermatology, 13, 234–237.

    PubMed  Google Scholar 

  • Brantus, J. F., & Meunier, P. J. (1998). Effects of intravenous etidronate and oral corticosteroids in fibrodysplasia ossificans progressiva. Clinical Orthopaedics, 346, 117–120.

    Article  Google Scholar 

  • Bridges, A. J., Hsu, K. C., Singh, A., et al. (1994). Fibrodysplasia (myositis) ossificans progressiva. Seminars in Arthritis and Rheumatism, 24, 155–164.

    Article  CAS  PubMed  Google Scholar 

  • Carter, S. R., Davies, A. M., Evans, N., et al. (1989). Value of bone scanning and computed tomography in fibrodysplasia ossificans progressiva. British Journal of Radiology, 62, 269–272.

    Article  CAS  PubMed  Google Scholar 

  • Carvalho, D. R., Navarro, M. M. M., Martins, M. J. A. F., et al. (2010). Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Clinical Genetics, 77, 171–176.

    Article  CAS  PubMed  Google Scholar 

  • Cohen, M. M., Jr. (2002). Bone morphogenetic proteins with some comments on fibrodysplasia ossificans progressiva and NOGGIN. American Journal of Medical Genetics, 109, 87–92.

    Article  PubMed  Google Scholar 

  • Cohen, R. B., Hahn, G. V., Tabas, J. A., et al. (1993). The natural history of heterotopic ossification in patients who have Fibrodysplasia ossificans progressiva. A study of forty-four patients. Journal of Bone and Joint Surgery (America), 75, 215–219.

    Article  CAS  Google Scholar 

  • Connor, J. M., & Evans, D. A. (1982a). Extra-articular ankylosis in fibrodysplasia ossificans progressiva. The British Journal of Oral Surgery, 20, 117–121.

    Article  CAS  PubMed  Google Scholar 

  • Connor, J. M., & Evans, D. A. (1982b). Genetic aspects of fibrodysplasia ossificans progressiva. Journal of Medical Genetics, 19, 35–39.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Connor, J. M., & Evans, D. A. (1982c). Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. Journal of Bone and Joint Surgery (British), 64, 76–83.

    CAS  Google Scholar 

  • Connor, J. M., & Smith, R. (1982). The cervical spine in fibrodysplasia ossificans progressiva. British Journal of Radiology, 55, 492–496.

    Article  CAS  PubMed  Google Scholar 

  • Connor, J. M., Skirton, H., & Lunt, P. W. (1993). A three generation family with fibrodysplasia ossificans progressiva. Journal of Medical Genetics, 30, 687–689.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cramer, S. F., Ruehl, A., & Mandel, M. A. (1981). Fibrodysplasia ossificans progressiva: A distinctive bone-forming lesion of the soft tissue. Cancer, 48, 1016–1021.

    Article  CAS  PubMed  Google Scholar 

  • Cremin, B., Connor, J. M., & Beighton, P. (1982). The radiological spectrum of fibrodysplasia ossificans progressiva. Clinical Radiology, 33, 499–508.

    Article  CAS  PubMed  Google Scholar 

  • Delatycki, M., & Rogers, J. G. (1998). The genetics of fibrodysplasia ossificans progressiva. Clinical Orthopaedics and Related Research, 346, 15–18.

    Article  Google Scholar 

  • Faruqi, T., Dhawan, N., Bahl, J., et al. (2014). Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. BioMedical Research International, 2014, 1–16.

    Article  Google Scholar 

  • Feldman, G., Li, M., Martin, S., et al. (2000). Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. American Journal of Human Genetics, 66, 128–135.

    Article  CAS  PubMed  Google Scholar 

  • Groppe, J. C., Shore, E. M., & Kaplan, F. S. (2007). Functional modeling of the ACVR1 (R206H) mutation in FOP. Clinical Orthopaedics and Related Research, 462, 87–89.

    Article  PubMed  Google Scholar 

  • Hall, J. G., Schaller, J. G., Worsham, N. G., et al. (1979). Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) treatment with disodium etidronate. Journal of Pediatrics, 94, 679–680.

    Article  CAS  PubMed  Google Scholar 

  • Herrera-Esparza, R., Pacheco-Tovar, D., Bollain-y-Goytia, J., et al. (2013). An activin receptor IA/activin-Like kinase-2 (R206H) mutation in fibrodysplasia ossificans progressiva. Case Reports in Genetics, 2013, 1–5.

    Article  Google Scholar 

  • Hüning, I., & Gillessen-Kaesbach, G. (2014). Fibrodysplasia ossificans progressiva: Clinical course, genetic mutations and genotype-phenotype correlation. Molecular Syndromology, 5, 201–211.

    Article  PubMed  PubMed Central  Google Scholar 

  • Janoff, H. B., Muenke, M., Johnson, L. O., et al. (1996). Fibrodysplasia ossificans progressiva in two half-sisters: Evidence for maternal mosaicism. American Journal of Medical Genetics, 61, 320–324.

    Article  CAS  PubMed  Google Scholar 

  • Kaplan, F. S., & Glaser, D. L. (2005). Thoracic insufficiency syndrome in patients with fibrodysplasia ossificans progressiva. Clinical Reviews in Bone and Mineral Metabolism, 3, 213–216.

    Article  Google Scholar 

  • Kaplan, F. S., McCluskey, W., Hahn, G., et al. (1993). Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. Journal of Bone and Joint Surgery America, 75, 1214–1220.

    Article  CAS  Google Scholar 

  • Kaplan, F. S., Glaser, D. L., Shore, E. M., et al. (2005). The phenotype of: Fibrodysplasia ossificans progressiva. Clinical Reviews in Bone and Mineral Metabolism, 3, 183–188.

    Article  Google Scholar 

  • Kaplan, F. S., Glaser, D. L., Pignolo, R. J., et al. (2007). A new era for fibrodysplasia ossificans progressiva: A druggable target for the second skeleton. Expert Opinion on Biological Therapy, 7, 705–712.

    Article  CAS  PubMed  Google Scholar 

  • Kaplan, F. S., Shen, Q., Lounev, V., et al. (2008). Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP). Journal of Bone and Mineral Metabolism, 26, 521–530.

    Article  PubMed  PubMed Central  Google Scholar 

  • Kartal-Kaess, M., Shore, E. M., Xu, M., et al. (2010). Fibrodysplasia ossificans progressiva (FOP): Watch the great toes! European Journal of Pediatrics, 169(11), 1417–1421.

    Article  PubMed  Google Scholar 

  • Kocyigit, H., Hizli, N., Memis, A., et al. (2001). A severely disabling disorder: Fibrodysplasia ossificans progressiva. Clinical Rheumatology, 20, 273–275.

    Article  CAS  PubMed  Google Scholar 

  • Levy, C., Berner, T. F., Sandhu, P. S., et al. (1999). Mobility challenges and solutions for fibrodysplasia ossificans progressiva. Archives of Physical Medicine and Rehabilitation, 80, 1349–1353.

    Article  CAS  PubMed  Google Scholar 

  • Liu, J.-X., Hu, R., Sun, Y., et al. (2014). General anesthesia in fibrodysplasia ossificans progressive: A case report and clinical review. International Journal of Clinical and Experimental Medicine, 7, 1474–1479.

    PubMed  PubMed Central  Google Scholar 

  • Liu, H., Sawyer, S. L., Gos, M., et al. (2015). Atypical fibrodysplasia ossificans progressiva diagnosed by whole exome sequencing. American Journal of Medical Genetics Part A, 167A, 1337–1341.

    Article  Google Scholar 

  • Lucotte, G., Semonin, O., & Lutz, P. (1999). A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. Clinical Genetics, 56, 469–470.

    Article  CAS  PubMed  Google Scholar 

  • Lucotte, G., Bathelier, C., Mercier, G., et al. (2000). Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22. Genetic Counseling, 11, 329–334.

    CAS  PubMed  Google Scholar 

  • Maftei, C., Rypens, F., Thiffault, I., et al. (2015). Fibrodysplasia ossificans progressiva: Bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition – Clinical report and review of the literature. Prenatal Diagnosis, 35, 305–307.

    Article  PubMed  Google Scholar 

  • Mahboubi, S., Glaser, D. L., Shore, E. M., et al. (2001). Fibrodysplasia ossificans progressiva. Pediatric Radiology, 31, 307–314.

    Article  CAS  PubMed  Google Scholar 

  • Pachajoa, H., & Botero, A. F. (2015). Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America). BMJ Case Reports, 2015, 1–6.

    Article  Google Scholar 

  • Pawar, S. U., Sahoo, S., Manglunia, A., et al. (2015). Fibrodysplasia ossificance progressiva: A familial presentation. Indian Journal of Nuclear Medicine, 30, 290–291.

    Article  PubMed  PubMed Central  Google Scholar 

  • Pignolo, R. J., Shore, E. M., & Kaplan, F. S. (2013). Fibrodysplasia ossificans progressiva: Diagnosis, management, and therapeutic horizons. Pediatric Endocrinology Reviews, 10, 437–448.

    PubMed  PubMed Central  Google Scholar 

  • Rogers, J. G., & Geho, W. B. (1979). Fibrodysplasia ossificans progressiva. A survey of forty-two cases. Journal of Bone and Joint Surgery America, 61, 909–914.

    Article  CAS  Google Scholar 

  • Schroeder, H. W., Jr., & Zasloff, M. (1980). The hand and foot malformations in fibrodysplasia ossificans progressiva. The Johns Hopkins Medical Journal, 147, 73–78.

    PubMed  Google Scholar 

  • Sémonin, O., Fontaine, K., Daviaud, C., et al. (2001). Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. American Journal of Medical Genetics, 102, 314–317.

    Article  PubMed  Google Scholar 

  • Shafritz, A. B., Shore, E. M., Gannon, F. H., et al. (1996). Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. The New England Journal of Medicine, 335, 555–561.

    Article  CAS  PubMed  Google Scholar 

  • Shore, E. M., & Kaplan, F. S. (2005). Fibrodysplasia ossificans progressiva and progressive osseous heteroplasia. Clinical Reviews in Bone and Mineral Metabolism, 3, 257–259.

    Article  Google Scholar 

  • Shore, E. M., Xu, M., Feldman, G. J., et al. (2006). A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genetics, 38, 525–527.

    Article  CAS  PubMed  Google Scholar 

  • Smith, R. (1998). Fibrodysplasia (myositis) ossificans progressiva. Clinical lessons from a rare disease. Clinical Orthopaedics and Related Research, 346, 7–14.

    Article  Google Scholar 

  • Taslimi, R., Jafarpour, S., & Hassanpour, N. (2015). FOP: Still turning into stone. Clinical Rheumatology, 34, 379–384.

    Article  PubMed  Google Scholar 

  • Tulchinsky, M. (2007). Diagnostic features of fibrodysplasia (myositis) ossificans progressiva on bone scan. Clinical Nuclear Medicine, 32, 616–619.

    Article  PubMed  Google Scholar 

  • Virdi, A. S., Shore, E. M., Oreffo, R. O., et al. (1999). Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva. Calcified Tissue International, 65, 250–255.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media LLC

About this entry

Cite this entry

Chen, H. (2017). Fibrodysplasia Ossificans Progressiva. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_93

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_93

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics