What is it about?

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disease characterized by malformations of the great toe and inflammatory flare-ups of soft tissues that lead to progressive formation of heterotopic ossification (HO).

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Why is it important?

Here we report an individual with non-classical FOP in order to broaden phenotypic and genotypic knowledge of FOP, facilitate diagnosis, treatment and genetic counseling, and to increase awareness in the medical community of this ultra-rare disorder.

Perspectives

We hope that this case will serve as a catalyst for increasing awareness of FOP in under-represented medical communities, for achieving correct FOP diagnosis, for access of individuals with FOP to clinical trial recruitment and for the ability of all affected individuals to reach the international FOP community.

Paula Oliveira
Universidade Katyavala Bwila

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This page is a summary of: Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1 G328E variant, American Journal of Medical Genetics Part A, May 2021, Wiley, DOI: 10.1002/ajmg.a.62253.
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