Classification, nosology and diagnostics of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) comprises a group of heritable connective tissue disorders which has as cardinal features varying degrees of skin hyperextensibility, joint hypermobility, easy bruising and skin fragility. The 2017 New York nosology distinguishes 13 types of EDS, which all, except hyperm...

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Autor principal:	Ben C J Hamel
Formato:	article
Lenguaje:	EN
Publicado:	Diponegoro University 2019
Materias:	ehlers-danlos syndrome classification diagnosis Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/05172e2ec9ff4b0fa0b412552df63008
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spelling	oai:doaj.org-article:05172e2ec9ff4b0fa0b412552df630082021-11-05T16:47:32ZClassification, nosology and diagnostics of Ehlers-Danlos syndrome2503-217810.14710/jbtr.v5i2.4531https://doaj.org/article/05172e2ec9ff4b0fa0b412552df630082019-12-01T00:00:00Zhttps://ejournal2.undip.ac.id/index.php/jbtr/article/view/4531https://doaj.org/toc/2503-2178Ehlers-Danlos syndrome (EDS) comprises a group of heritable connective tissue disorders which has as cardinal features varying degrees of skin hyperextensibility, joint hypermobility, easy bruising and skin fragility. The 2017 New York nosology distinguishes 13 types of EDS, which all, except hypermobile EDS, have a known molecular basis. Hypermobile EDS is recognized as a common and often disabling disorder, incorporating benign joint hypermobility syndrome. EDS needs to be differentiated from other connective tissue disorders, in particular Marfan syndrome, Loeys-Dietz syndrome and cutis laxa. The frequent types of EDS can be diagnosed after careful history taking and clinical examination, but for definite diagnosis molecular confirmation is needed in all types. Management for EDS patients preferably is provided by multidisciplinary teams in expertise centres. After diagnosing EDS genetic counselling is an essential part of the management of patients and their family.Ben C J HamelDiponegoro Universityarticleehlers-danlos syndromeclassificationdiagnosisMedicine (General)R5-920ENJournal of Biomedicine and Translational Research, Vol 5, Iss 2, Pp 34-46 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	ehlers-danlos syndrome classification diagnosis Medicine (General) R5-920
spellingShingle	ehlers-danlos syndrome classification diagnosis Medicine (General) R5-920 Ben C J Hamel Classification, nosology and diagnostics of Ehlers-Danlos syndrome
description	Ehlers-Danlos syndrome (EDS) comprises a group of heritable connective tissue disorders which has as cardinal features varying degrees of skin hyperextensibility, joint hypermobility, easy bruising and skin fragility. The 2017 New York nosology distinguishes 13 types of EDS, which all, except hypermobile EDS, have a known molecular basis. Hypermobile EDS is recognized as a common and often disabling disorder, incorporating benign joint hypermobility syndrome. EDS needs to be differentiated from other connective tissue disorders, in particular Marfan syndrome, Loeys-Dietz syndrome and cutis laxa. The frequent types of EDS can be diagnosed after careful history taking and clinical examination, but for definite diagnosis molecular confirmation is needed in all types. Management for EDS patients preferably is provided by multidisciplinary teams in expertise centres. After diagnosing EDS genetic counselling is an essential part of the management of patients and their family.
format	article
author	Ben C J Hamel
author_facet	Ben C J Hamel
author_sort	Ben C J Hamel
title	Classification, nosology and diagnostics of Ehlers-Danlos syndrome
title_short	Classification, nosology and diagnostics of Ehlers-Danlos syndrome
title_full	Classification, nosology and diagnostics of Ehlers-Danlos syndrome
title_fullStr	Classification, nosology and diagnostics of Ehlers-Danlos syndrome
title_full_unstemmed	Classification, nosology and diagnostics of Ehlers-Danlos syndrome
title_sort	classification, nosology and diagnostics of ehlers-danlos syndrome
publisher	Diponegoro University
publishDate	2019
url	https://doaj.org/article/05172e2ec9ff4b0fa0b412552df63008
work_keys_str_mv	AT bencjhamel classificationnosologyanddiagnosticsofehlersdanlossyndrome
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Classification, nosology and diagnostics of Ehlers-Danlos syndrome

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