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Ehlers-Danlos Syndrome

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Atlas of Genetic Diagnosis and Counseling

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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).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Ehlers-Danlos Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_78-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_78-2

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  • Online ISBN: 978-1-4614-6430-3

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