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Fibrous dysplasia is described in the packet definition as a genetic, non-inheritable disorder in which osteoblastic differentiation defects lead to replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones, with the skull, femur, tibia and humerus named as the most frequently affected. Monostotic, polyostotic and panostotic forms are listed as subtypes. A certified prevalence estimate is not supplied in this packet.
The definition states that the condition manifests with pain, deformities and fractures. Phenotype annotations in the packet record fibrous dysplasia of the bones as always present (100%). Abnormal limb, axial skeleton and skull morphology, osteolysis and abnormal bone structure are listed at 80-99%. Features listed at 30-79% include cortical irregularity, bowing of the long bones, patchy reduction of bone mineral density, bone pain, antalgic gait, pathologic fracture, thin bony cortex, abnormal facial skeleton morphology, rickets, elevated alkaline phosphatase and hypophosphatemia. Lower limb asymmetry is listed at 5-29%. An age of onset is not supplied.
According to the packet definition, the condition is genetic and non-inheritable and arises from osteoblastic differentiation defects. No gene or inheritance pattern is supplied in this packet, so the specific genetic basis is not characterized here.
The packet supplies no diagnostic-method entries, no GeneReviews chapter and no newborn screening information for this condition, so diagnostic approaches are not described here.
The packet supplies no foundational-therapy entries, no GeneReviews management text and no verified FDA approval records for fibrous dysplasia, so treatment is not described here, which reflects the packet contents only. The packet's orphan-drug listing contains entries whose stated indications concern other conditions, and none is presented as a treatment for fibrous dysplasia.
7 trials found
Natural history and outcome information is not certified in this packet. The definition notes that the condition manifests with pain, deformities and fractures, and pathologic fracture is annotated at 30-79%.
ClinicalTrials.gov records supplied include NCT07870616 (CRANIO-DF, morbidity in adults with craniofacial fibrous dysplasia; Centre Hospitalier Universitaire de Nice; not yet recruiting; 2026-12-01 to 2028-12-01), NCT07654647 (patient-specific 3D-printed titanium implants for facial reconstruction; Latakia University; phase NA; recruiting; 2026-04-26 to 2026-11-01) and NCT07507942 (femoral failure load and fracture risk in fibrous dysplasia of bone/McCune-Albright syndrome; Hospices Civils de Lyon; active, not recruiting; 2025-03-10 to 2027-03-10). One further supplied record with a passed completion date is not described. The FD/MAS Alliance is listed as a patient organization.
Data assembled from 5 of 12 sources · Last updated Nov 3, 2026, 2:35 AM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning fibrous dysplasia
Updated Aug 3, 2026
A recent perspective highlights the significant unmet need for effective treatments in fibrous dysplasia and rare pediatric bone diseases. The article discusses current challenges and the necessity for innovative therapeutic approaches.
A new injectable matrix metalloproteinase-responsive nanoparticle hydrogel scaffold has been developed for sustained local drug delivery in fibrous dysplasia. This innovative approach could enhance treatment efficacy for patients with this rare bone disorder.
A preclinical study investigates the effects of anti-RANKL and Zoledronate therapies in a mouse model of fibrous dysplasia. The findings contribute to understanding potential treatment strategies for this rare bone disorder.