fibrous dysplasia
Findings
No curated finding names fibrous dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.
Definition from the Mondo Disease Ontology (MONDO:0000845), read 2026-09-29. CC BY 4.0.
Features
62 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.
- Fibrous dysplasia of boneHPOHP:0010734
- Obligate (100% of cases)
- Abnormal axial skeleton morphologyHPOHP:0009121
- Very frequent (80% to 99% of cases)
- Abnormal bone structureHPOHP:0003330
- Very frequent (80% to 99% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Abnormality of limbsHPOHP:0040064
- Very frequent (80% to 99% of cases)
- OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
- Abnormal facial skeleton morphology
Show the remaining 50
- Bone painHPOHP:0002653
- Frequent (30% to 79% of cases)
- Bowing of the long bonesHPOHP:0006487
- Frequent (30% to 79% of cases)
- Cortical irregularityHPOHP:0005731
- Frequent (30% to 79% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Frequent (30% to 79% of cases)
- HypophosphatemiaHPOHP:0002148
- Frequent (30% to 79% of cases)
- Patchy reduction of bone mineral densityHPOHP:0010657
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: fibrous dysplasia
- Also called
- fibrous dysplasia of bone