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The Ehlers-Danlos Syndromes (EDS) form a large group of related disorders that are caused by genetic defects in collagen, either by lack of amount or being structurally dysfunctional. The clinical features are associated with alterations of the skin, muscles, skeleton, and blood vessels. Hyperelasticity of the skin, hypermobility of the joints leading easily to dislocations, vascular wall anomalies causing aneurysms and hemorrhages, are pathognomic signs of the disease.

Originally, the subtypes were described and referred to using Roman numeral designations (EDS I-EDS XI). This classification was based primarily on symptoms and mode of inheritance. Subsequently, EDS was classified into six subtypes based on the characteristic features observed in affected individuals. In 2017, the International Classification for the Ehlers-Danlos Syndromes was published, in which thirteen descriptive subtypes have been recognized. The 2017 International Classification most recently outlines a classification based on underlying genetic causes (Groups A-F) that is used for research purposes. See Table E-1.

TABLE E-1Ehlers-Danlos Syndrome Classification

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