Skip to main content
  • Poster presentation
  • Open access
  • Published:

FOP in South Africa: awareness leads to diagnosis


Fibrodysplasia Ossificans Progressiva (FOP) is a genetic disorder (autosomal dominant)in which there is progressive ossification of skeletal muscle. The majority of affected persons represent new mutations for the determinant gene, ACVR1 the protein product of which acts to regultae Bone Morphogenic Protein expression.(1)FOP presents in early childhood, with painful , hard areas of ossification in the muscles of the back/neck and progressive limitation leading to immbobilisation of all joints by adulthood.Previously there were few reports of FOP from Africa.We recently reported on 3 patients from South Africa(2) and have in the last 18months diagnosed a further 6 patients.


We document 9 affected individuals in the Xhosa, Afrikaner and mixed ancestry community.


Two were reported in childhoodalmost three decades ago, five are young children, and two presented in their teens. All have the typical features of heterotopic ossification as well as the characteristic halluxvalgus. Two patients underwent unnecessary and harmful biopsies and one patient sustained a fracture of one of the areas of heterotopic bone during positioning for diagnostic xrays. In these three cases the tissue trauma exacerbated and stimulated heterotopic bone formation.


FOP is a devastating condition with no known cure, but early diagnosis is essential to prevent unnecessary and directly harmful special investigations.In our experience an increased awareness has led to a flurry of new diagnoses, leading to early referral and appropriate counselling and management. Paediatric rheumatologists should be aware of this condition, in order to facilitate patient diagnosis and avoid harmful procedures.


  1. Kaplan FS, Shen Q, Lounev V, Seemann P, Groppe J, Katagiri T: Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP). J Bone Miner Metab. 2008, 26 (6): 521-30. 10.1007/s00774-008-0879-8.

    Article  PubMed Central  PubMed  Google Scholar 

  2. Scott C, Urban M, Arendse R, Dandara C, Beighton P: Fibrodysplasia ossificans progressiva in South Africa: difficulties in management in a developing country. J Clin Rheumatol. 2011, 17 (1): 37-41.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations


Rights and permissions

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Reprints and permissions

About this article

Cite this article

Scott, C. FOP in South Africa: awareness leads to diagnosis. Pediatr Rheumatol 9 (Suppl 1), P31 (2011).

Download citation

  • Published:

  • DOI: