This site is intended for US Healthcare Professionals only.
This site is intended for US Healthcare Professionals only.

Prevalence of FOP

The disease is estimated to affect 1.36 persons per million according to an innovative population study in France by Baujat and colleagues.2

Over 800 cases of FOP have been reported worldwide.3

The rarity of FOP may contribute to mistaken or delayed diagnosis, which can exacerbate the condition through use of inappropriate procedures.4

Learn more about identifying FOP, and recognizing the distinct clinical features that should lead to suspicion of the disease.

Genetic Mutations

FOP is caused by dominant gain of function mutation in the gene that encodes for the ALK2 receptor,  BMP-type 1 receptor. Most known cases of FOP are caused by a spontaneous (de novo) mutation, occurring in people with no family history of the disease.5-7

References

  1. Shore EM, et al. Clin Rev Bone Miner Metabol 2005; 3:201-204.
  2. Baujat et al. Orphanet Journal of Rare Diseases (2017) 12:123
  3. OrphaNet: Fibrodysplasia ossificans progressiva. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=337. Accessed June 13, 2018.
  4. Kitterman JA, et al. Pediatrics 2005;116;e654.
  5. Kaplan FS. Hum Mutat. 2009 March ; 30(3): 379–390.
  6. Shore EM, et al. Clin Rev Bone Miner Metabol 2005; 3:201-204.
  7. Pignolo RJ et al. Pediatr Endocrinol Rev. 2013 June ; 10(0 2): 437–448.

 

genetic-mutations

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Please always consult a healthcare professional if you require healthcare advice or if you have any specific concerns regarding Fibrodysplasia Ossificans Progressiva. The information provided here is not intended to replace professional advice. This website has been developed by Ipsen in collaboration with those living with Fibrodysplasia Ossificans Progressiva and the healthcare professionals who care for them. Ipsen would like to thank everyone for their valuable insights and stories. All names used on this website are not necessarily real names. Visit our website for more information about us, or to contact us directly. Website design and development by Kanga Health Ltd. Website reference NON-US-002031 December 2020