osteofibrous dysplasia
Findings
No curated finding names osteofibrous dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.
Definition from the Mondo Disease Ontology (MONDO:0011806), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
2 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.
- Pathologic fractureHPOHP:0002756
- 6 of 6 reported patients · Childhood onset
- Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% 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.
- METHGNC:7029
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
7 names
Resolves to: osteofibrous dysplasia
- Also called
- cortical fibrous dysplasiaKempson-Campanacci lesionOFDOSFDossifying fibroma of long bonesosteofibrous dysplasia of bonetibia, bowing of, with pseudarthrosis and pectus excavatum