Clinical diagnosis of the monogenic Ehlers-Danlos syndromes

Abstract: Monogenic Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue conditions that are clinically characterised by joint hypermobility, skin hyperextensibility and/or fragility, and generalised tissue fragility. Gene panel testing with massively parallel sequencing is currently gold standard to confirm diagnoses of the monogenic EDS types. We aim to report on the (combination of) clinical features of the monogenic EDS types through text and photographs, to aid clinical diagnosis as despite the significant progress in genetic testing possibilities, a thorough clinical assessment which includes medical history, family history and physical examination remains important in the diagnostic process. In addition, in those cases where no molecular diagnosis is possible, a clinical diagnosis can still guide management and surveillance.

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• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch

References and Relationships

• Bibliographic citation: Clinical diagnosis of the monogenic Ehlers-Danlos syndromes ; volume:36 ; number:4 ; year:2024 ; pages:225-234 ; extent:10 ; Medizinische Genetik ; 36, Heft 4 (2024), 225-234 (gesamt 10)

Contributors, Places and Time

• Creator: van Dijk, Fleur S. ; Angwin, Chloe ; Demirdas, Serwet ; Ghali, Neeti ; Zschocke, Johannes

Further information

• DOI: 10.1515/medgen-2024-2060
• URN: urn:nbn:de:101:1-2412031836524.422638496091
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.