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Skeletal variations and diseases encompass a wide range of bone deformities and disorders that affect both the structural integrity and functional capacity of the skeletal system. This review delves into the anatomical, genetic, and environmental factors that contribute to skeletal abnormalities, exploring conditions such as scoliosis, osteogenesis imperfecta, rickets, and osteoarthritis. By examining the molecular pathways involved in bone development and remodeling, the article highlights the intricate balance of osteoblast and osteoclast activity in maintaining bone health. Disruptions in this balance can result in congenital deformities, metabolic bone diseases, or degenerative conditions. Emerging research in genetics, biomechanics, and regenerative medicine provides insights into the diagnosis, prevention, and treatment of these skeletal disorders. Understanding the interplay between genetic predispositions, environmental influences, and lifestyle factors is crucial for developing targeted therapeutic strategies and improving quality of life for affected individuals. This review aims to offer a comprehensive overview of skeletal variations and their pathological manifestations, emphasizing both current challenges and advancements in treatment approaches.