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GTR Home > Conditions/Phenotypes > Progressive myositis ossificans

Progressive myositis ossificans

Synonyms
Fibrodysplasia Ossificans Progressiva; Myositis ossificans progressiva; Progressive ossifying myositis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including intramuscular vaccinations. Painful, recurrent soft-tissue swellings (flare-ups) may precede localized heterotopic ossification. Heterotopic ossification can occur at any location, but typically affects regions in close proximity to the axial skeleton in the early/mild stages, before progressing to the appendicular skeleton. This can lead to restriction of movement as a result of ossification impacting joint mobility. Problems with swallowing and speaking can occur with ossification affecting the jaw, head, and neck, and restriction of the airway and breathing may lead to thoracic insufficiency syndrome.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Lauren S Akesson
Ravi Savarirayan
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Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI, ACVR1
    Summary: activin A receptor type 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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