Ehlers-Danlos Syndrome

Reference work entry

Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous heritable connective tissue disorders affecting skin, ligaments, joints, blood vessels, and internal organs. EDS is characterized by skin extensibility, joint hpermobility, and tissue fragility. EDS result from mutations in genes involved in extracellular matrix formation and organization, leading to a predisposition for loss of structural integrity in tissues within multiple organ systems (Barabas 1967). The prevalence of EDS is estimated to be about 1 in 5,000 births.

Synonyms and Related Disorders

EDS I (Gravis type); EDS II (mitis type); EDS III (hypermobile type); EDS IV (arterial-ecchymotic type); EDS VI (kyphoscoliotic type); EDS VIIA, VIIB (arthrochalasis type); EDS VIIC (Dermatospraxis type); EDS VIII; EDS IX (occipital horn syndrome/X-linke cutis laxa); EDS IX (occipital horn syndrome/X-linke cutis laxa); EDS X; EDS XI

Genetics/Basic Defects

  1. 1.
    Classic type (includes EDS type I, gravis type...


Mitral Valve Prolapse Autosomal Dominant Inheritance Joint Hypermobility Generalize Joint Hypermobility Vascular Type 
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