HEREDITARY DISORDERS OF CONNECTIVE TISSUE STRUCTURE AND FUNCTION: DEFINITIONS, CLASSIFICATION APPROACHES, EPIDEMIOLOGY

Abstract

Research relevance. Modern medical terminology ensures unambiguous interpretation of diagnoses by specialists in various fields, which is crucial for coordinated patient management. However, in the context of studying hereditary connective tissue (CT) disorders, significant terminological inconsistency is observed. Research objective. To analyze modern terminological approaches to describing CT structure and function disorders, and to identify causes of terminological heterogeneity. In particular, it is important to determine whether existing concepts can be considered a supra-nosological category combining syndromes of hereditary CT dysfunctions, or whether new classification criteria meeting ICD-11 requirements need to be developed.

Materials and research methods. A systematic analysis of publications from the last decade (2015-2025) was conducted using PubMed, eLibrary, CyberLeninka databases, as well as international clinical guidelines. Results. A literature review is presented on the diagnosis of connective tissue dysplasia (CTD), its prevalence, key definitions, leading syndromes, and modern diagnostic methods.  Conclusions. Accurate diagnosis of CTD requires an interdisciplinary approach, combining clinical, genetic, and instrumental data. The prevalence and progression of CTD depend on age and sex, with critical periods occurring in adolescence and adulthood. The wide range of phenotypic manifestations emphasizes the need for individualized diagnostic and management strategies. Development of standardized diagnostic and classification criteria is necessary to improve the accuracy of CTD diagnostics and facilitate research.