The Ehlers‐Danlos Syndrome

Steinmann, Beat; Royce, Peter M.; Superti‐Furga, Andrea

doi:10.1002/0471221929.ch9

Cited by 360Connective tissue disorders researchDermatological and Skeletal DisordersOral and gingival health research

The Ehlers‐Danlos Syndrome

Steinmann, Beat, Royce, Peter M., Superti‐Furga, Andrea·2002·Connective Tissue and Its Heritable Disorders

DOI 10.1002/0471221929.ch9

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Abstract

The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue characterized by articular hypermobility, skin hyperextensibility, and tissue fragility affecting skin, ligaments, joints, blood vessels, and internal organs. In this chapter, we try to cover the EDS in a comprehensive and authoritative way, to consider the different aspects as objectively as possible, and to clarify earlier concepts and conclusions that today are no longer tenable. To give the reader an idea of how knowledge was gained, references are often cited in a historical sequence.

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The hallmarks of arthrochalasia EDS are severe generalized joint hypermobility, congenital bilateral hip dislocation, and recurrent subluxations and dislocations of both small and large joints.
“The hallmarks of the disorder are severe generalized joint hypermobility, congenital bilateral hip dislocation, and recurrent subluxations and dislocations of both small and large joint [Steinmann et al., 2002] (Representative picture of the phenotype are given in Fig. 1).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Steinmann et al., 2002
A range of clinical severity is observed in individuals with kEDS-PLOD1 for each of the systems discussed.
“A range of clinical severity is observed in individuals with kEDS-PLOD1 for each of the systems discussed as detailed in the above section [Steinmann et al., 2002;Rohrbach et al., 2011].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Steinmann et al., 2002

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Authors: Steinmann, B., Royce, P. M., & Superti‐Furga, A.
Affiliations: University of Zurich (CH)
ORCID: Steinmann, Beat
Superti‐Furga, Andrea
Venue: Connective Tissue and Its Heritable Disorders
Publisher: Wiley
Published: 2002-05-10
Pages: 431-523
DOI: 10.1002/0471221929.ch9
OpenAlex: W1531218076
Cited by: 358
References: 0
Citations by year: 2026: 3 · 2025: 10 · 2024: 9 · 2023: 5 · 2022: 5 · 2021: 13 · 2020: 14 · 2019: 11 · 2018: 9 · 2017: 16 · 2016: 12 · 2015: 16 · 2014: 19 · 2013: 18 · 2012: 21
Type: other
Language: en
Open access: closed
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Health Sciences › Health Professions › Pharmacy › Oral and gingival health research
Keywords: Ehlers-Danlos syndrome, hereditary connective tissue disorders, skin hyperextensibility, tissue fragility, ligamentous laxity, vascular fragility, internal organ involvement

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