Fibrous dysplasia
diseaseOn this page
Also known as fibrous dysplasia of bone
Summary
Fibrous dysplasia (MONDO:0000845) is a disease and 17 clinical trials. Top therapeutic interventions include denosumab, burosumab, and risedronic acid. A subtype of bone remodeling disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 62
- Clinical trials: 17
Clinical features
Signs & symptoms
Clinical features (HPO)
62 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0010734 | Fibrous dysplasia of the bones | Obligate (100%) |
| HP:0000929 | Abnormal skull morphology | Very frequent (80-99%) |
| HP:0002797 | Osteolysis | Very frequent (80-99%) |
| HP:0003330 | Abnormal bone structure | Very frequent (80-99%) |
| HP:0009121 | Abnormal axial skeleton morphology | Very frequent (80-99%) |
| HP:0040064 | Abnormality of limbs | Very frequent (80-99%) |
| HP:0000277 | Abnormality of the mandible | Frequent (30-79%) |
| HP:0000326 | Abnormality of the maxilla | Frequent (30-79%) |
| HP:0002148 | Hypophosphatemia | Frequent (30-79%) |
| HP:0002653 | Bone pain | Frequent (30-79%) |
| HP:0002748 | Rickets | Frequent (30-79%) |
| HP:0002753 | Thin bony cortex | Frequent (30-79%) |
| HP:0002756 | Pathologic fracture | Frequent (30-79%) |
| HP:0002823 | Abnormality of femur morphology | Frequent (30-79%) |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Frequent (30-79%) |
| HP:0005731 | Cortical irregularity | Frequent (30-79%) |
| HP:0006487 | Bowing of the long bones | Frequent (30-79%) |
| HP:0010657 | Patchy reduction of bone mineral density | Frequent (30-79%) |
| HP:0010668 | Abnormal zygomatic bone morphology | Frequent (30-79%) |
| HP:0011821 | Abnormality of facial skeleton | Frequent (30-79%) |
| HP:0031955 | Antalgic gait | Frequent (30-79%) |
| HP:0031095 | Abnormal humerus morphology | Occasional (5-29%) |
| HP:0000772 | Abnormal rib morphology | Occasional (5-29%) |
| HP:0000889 | Abnormality of the clavicle | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0002696 | Abnormal parietal bone morphology | Occasional (5-29%) |
| HP:0002749 | Osteomalacia | Occasional (5-29%) |
| HP:0002812 | Coxa vara | Occasional (5-29%) |
| HP:0002818 | Abnormal morphology of the radius | Occasional (5-29%) |
| HP:0002992 | Abnormality of tibia morphology | Occasional (5-29%) |
| HP:0003319 | Abnormality of the cervical spine | Occasional (5-29%) |
| HP:0004302 | Functional motor deficit | Occasional (5-29%) |
| HP:0004322 | Short stature | Occasional (5-29%) |
| HP:0006316 | Irregularly spaced teeth | Occasional (5-29%) |
| HP:0009911 | Abnormal temporal bone morphology | Occasional (5-29%) |
| HP:0012294 | Abnormality of the occipital bone | Occasional (5-29%) |
| HP:0040071 | Abnormal morphology of ulna | Occasional (5-29%) |
| HP:0040163 | Abnormal pelvis bone morphology | Occasional (5-29%) |
| HP:0100559 | Lower limb asymmetry | Occasional (5-29%) |
| HP:0100712 | Abnormal lumbar spine morphology | Occasional (5-29%) |
| HP:0430000 | Abnormality of the frontal bone | Occasional (5-29%) |
| HP:0430022 | Abnormality of the sphenoid sinus | Occasional (5-29%) |
| HP:0001288 | Gait disturbance | Occasional (5-29%) |
| HP:0000138 | Ovarian cyst | Very rare (<1-4%) |
| HP:0000365 | Hearing impairment | Very rare (<1-4%) |
| HP:0000572 | Visual loss | Very rare (<1-4%) |
| HP:0000818 | Abnormality of the endocrine system | Very rare (<1-4%) |
| HP:0000819 | Diabetes mellitus | Very rare (<1-4%) |
| HP:0000836 | Hyperthyroidism | Very rare (<1-4%) |
| HP:0000845 | Elevated circulating growth hormone concentration | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | fibrous dysplasia |
| Mondo ID | MONDO:0000845 |
| MeSH | D005357 |
| Orphanet | 249 |
| DOID | DOID:0080031 |
| ICD-11 | 1704766818 |
| NCIT | C34609 |
| SNOMED CT | 10623005, 254145001 |
| UMLS | C0259779 |
| MedGen | 120444 |
| GARD | 0006444 |
| MedDRA | 10016664 |
| NORD | 1147 |
| Is cancer (heuristic) | no |
Also known as: fibrous dysplasia of bone
Data availability: 1 cell line.
Disease family
This is a subtype of bone remodeling disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone remodeling disease › fibrous dysplasia
Related subtypes (5): bone resorption disease, osteomalacia, hyperostosis, osteosclerosis, rickets
Subtypes (3): polyostotic fibrous dysplasia, monostotic fibrous dysplasia, panostotic fibrous dysplasia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Burosumab, Denosumab, Risedronic Acid, Tocilizumab.
Clinical trials & evidence
Clinical trials
Clinical trials: 17.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 12 |
| PHASE2 | 3 |
| PHASE4 | 1 |
| PHASE2/PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05966064 | PHASE4 | RECRUITING | DEnosumab for the Treatment of FIbrous Dysplasia/McCune-Albright Syndrome in Adults (DeFiD) |
| NCT00445575 | PHASE2/PHASE3 | COMPLETED | Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone |
| NCT01791842 | PHASE2 | COMPLETED | TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE |
| NCT05419050 | PHASE2 | COMPLETED | Study of Denosumab for Prevention of Skeletal Disease Progression in Children With Fibrous Dysplasia |
| NCT05509595 | PHASE2 | COMPLETED | Burosumab for Fibroblast Growth Factor-23 Mediated Hypophosphatemia in Fibrous Dysplasia |
| NCT03231644 | Not specified | RECRUITING | Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry |
| NCT07476768 | Not specified | NOT_YET_RECRUITING | PAINDYS_Characterizing Pain in Fibrous Dysplasia of Bone/McCune-Albright Syndrome: an Exploratory Pilot Study |
| NCT07507942 | Not specified | ACTIVE_NOT_RECRUITING | Assessment of Femoral Failure Load and Fracture Risk in Rare Bone Disorders Using MEKANOS Tool. Case Study of Fibrous Dysplasia of Bone/McCune Albright Syndrome |
| NCT07569731 | Not specified | RECRUITING | Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data |
| NCT03520153 | Not specified | WITHDRAWN | Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome |
| NCT03838991 | Not specified | COMPLETED | Epigenetic Regulation in Fibrous Dysplasia of Bone: mirDYS Study. |
| NCT04125862 | Not specified | COMPLETED | Pain in Fibrous Dysplasia |
| NCT04671719 | Not specified | COMPLETED | Determination of Circulating Autotaxin in Patients With GNAS or PTH Abnormalities |
| NCT04931056 | Not specified | COMPLETED | A Post Market Clinical Follow-up Study on Biomet Microfixation HTR PEKK (Midface), Facial & Mandibular Plates. |
| NCT05406544 | Not specified | COMPLETED | Df-Life : Quality of Life in Patients With Fibrous Dysplasia |
| NCT05422833 | Not specified | COMPLETED | Effectiveness of Medical Management of Fibrous Dysplasia of Bone. |
| NCT06177327 | Not specified | UNKNOWN | Hepato-pancreato-biliary Abnormalities in Fibrous Dysplasia of Bone/McCune Albright Syndrome |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| DENOSUMAB | 4 | 2 |
| BUROSUMAB | 4 | 1 |
| RISEDRONIC ACID | 4 | 1 |
Related Atlas pages
- Drugs: Denosumab, Burosumab, Risedronic Acid