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Ehlers-Danlos Syndrome

  • Harold Chen
Living reference work entry

Abstract

Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous heritable connective tissue disorders (Yeowell and Pinnell 1993) affecting the skin, ligaments, joints, blood vessels, and internal organs. EDS is characterized by skin extensibility, joint hypermobility (JHM), and tissue fragility. EDS results 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 (Steinmann et al. 1993).

Keywords

Mitral Valve Prolapse Autosomal Dominant Inheritance Joint Hypermobility Autosomal Recessive Inheritance Generalize Joint Hypermobility 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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