Fibrodysplasia ossificans progressiva is an autosomal dominant disorder characterized by extraskeletal, predominantly endochondreal, bone formation. The patients are progressivly disabled because of skeletal malformations.
The prevalence is 1 per 1-2,000,000. Most cases occur sporadically as severe bode deformations reduce the chances to reproduce.[Error: Macro 'ref' doesn't exist]
Heterotopic Ossification | |
In fibrodysplasia Ossificans Progressiva (FOP) heterotopic bone formation is localized in tendons, ligaments, skeletal muscles and fascia. Before the appearance of bone like tissues tumor-like inflammation (“flare-ups”) is observed. |
Inherited human diseases of heterotopic bone formation | ||||
Familial tumoral calcinosis | ||||
Fibrodysplasia ossificans progressiva | ||||
ACVR1 | ||||
Progressive osseous heteroplasia | ||||
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Lucotte G et al. (1999) A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. |
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None (2002) Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva. |
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Lucotte G et al. (2000) Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22. |
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OMIM.ORG article Omim 135100 |
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Orphanet article Orphanet ID 337 |
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Wikipedia article Wikipedia EN (Fibrodysplasia_ossificans_progressiva) |