fibrodysplasia ossificans progressiva
Findings
No curated finding names fibrodysplasia ossificans progressiva yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
Definition from the Mondo Disease Ontology (MONDO:0007606), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ectopic ossificationHPOHP:0011986
- Obligate (100% of cases)
- Ectopic ossification in muscle tissueHPOHP:0011987
- 1 of 1 reported patient · Infantile onset
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Hallux valgusHPOHP:0001822
- 1 of 1 reported patient · Congenital onset
- Occasional (5% to 29% of cases)
- Limitation of neck motionHPOHP:0005986
- 1 of 1 reported patient · Childhood onset
- Abnormal hallux morphologyHPOHP:0001844
Show the remaining 26
- Short halluxHPOHP:0010109
- Very frequent (80% to 99% of cases)
- Spinal rigidityHPOHP:0003306
- Very frequent (80% to 99% of cases)
- Subcutaneous noduleHPOHP:0001482
- Very frequent (80% to 99% of cases)
- Abnormal femoral neck morphologyHPOHP:0003367
- Frequent (30% to 79% of cases)
- Abnormal thumb morphologyHPOHP:0001172
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACVR1HGNC:171
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: fibrodysplasia ossificans progressiva
- Also called
- FOPprogressive myositis ossificansStone Man syndrome