Undifferentiated Connective Tissue Dysplasia in the Pediatric Population

Undifferentiated Connective Tissue Disease (UCTD) in children poses a difficult nosological challenge due to a critical dual definition in global medicine: the Western immunological paradigm (an early, unclassified autoimmune condition) and the Eurasian structural paradigm (Undifferentiated Connective Tissue Dysplasia, UCTD/CTD). This study focuses on the relatively widespread, multifactorial structural abnormalities of the extracellular matrix (ECM) in children [1]. We investigate the etiopathology of collagen and elastin fibrillogenesis abnormalities, which result in systemic tissue laxity and widespread phenotypic variability [2,3]. Multi-systemic involvement dominates the clinical picture, with high prevalence of musculoskeletal disorders such as Joint Hypermobility Syndrome and severe visceral manifestations such Minor Congenital Heart Defects and congenital urinary system anomalies [3]. Classification relies on organized scoring systems. This review emphasizes the critical need for a single, worldwide consensus to direct risk assessment, diagnosis, and treatment plans for kids with structural UCTD.