Rare Skeletal Disorders

Conventional outpatient physiotherapy fails the RSD population due to geographic barriers, fragmented care pathways, limited clinician expertise, insufficient psychosocial integration, and absence of socially engaging motor learning environments. Evidence-based rehabilitation strategies for RSDs remain critically underdeveloped, particularly during the transitional period from paediatric to adult care. Rare skeletal disorders are a clinically and genetically heterogeneous group classified within the Orphanet nosology, encompassing skeletal dysplasias, dysostoses, rare connective tissue disorders, and rare metabolic bone diseases. RSDs cause lifelong structural deformities, skeletal fragility, progressive mobility impairments, chronic pain, and significant psychosocial consequences. Individuals with RSDs frequently develop kinesiophobia rooted in skeletal fragility and fracture history, leading to activity avoidance that paradoxically accelerates functional decline.