فهرست نشریات علمی دسترسی آزاد ایران

Background and Objectives: Skeletal dysplasias (SDs) are a rare group of genetic disorders that disrupt bone and cartilage development, often leading to short stature, limb deformities, and functional impairments. Despite their clinical significance, upper limb involvement in SDs remains relatively underexplored in the literature, with few reviews focusing specifically on this aspect. This study aims to review the patterns, genetic bases, and clinical implications of upper limb manifestations across various SDs, to support early diagnosis and improve management strategies.   Methods: A comprehensive literature review was conducted through PubMed, Web of Science, Scopus, and Google Scholar, with no date restrictions. Search terms included "upper extremity," "skeletal dysplasia," and the names of specific disorders. Relevant clinical studies, case reports, and recommendations were selected and critically analyzed.   Results: Upper limb abnormalities are common across different types of skeletal dysplasia, presenting with varying degrees of bone shortening, joint contractures, and hand deformities. Despite the heterogeneity in presentation, overlapping genetic and pathophysiological mechanisms were identified, particularly mutations affecting bone growth pathways. Advances in genetic diagnosis have improved the recognition and classification of these conditions, offering prospects for personalized treatment. However, phenotypic variability and diagnostic challenges persist.   Conclusion: Recognizing upper limb manifestations is essential for the timely diagnosis and management of skeletal dysplasias. Genetic insights continue to drive advancements in therapy, yet a multidisciplinary approach remains crucial due to the complexity and diversity of these disorders.