Journal article
The Ehlers-Danlos syndromes.
- Malfait F Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. fransiska.malfait@ugent.be.
- Castori M Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
- Francomano CA Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
- Giunta C Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
- Kosho T Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
- Byers PH Department of Pathology and Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
- 2020-08-01
Published in:
- Nature reviews. Disease primers. - 2020
English
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising. Fourteen different types of EDS are recognized, of which the molecular cause is known for 13 types. These types are caused by variants in 20 different genes, the majority of which encode the fibrillar collagen types I, III and V, modifying or processing enzymes for those proteins, and enzymes that can modify glycosaminoglycan chains of proteoglycans. For the hypermobile type of EDS, the molecular underpinnings remain unknown. As connective tissue is ubiquitously distributed throughout the body, manifestations of the different types of EDS are present, to varying degrees, in virtually every organ system. This can make these disorders particularly challenging to diagnose and manage. Management consists of a care team responsible for surveillance of major and organ-specific complications (for example, arterial aneurysm and dissection), integrated physical medicine and rehabilitation. No specific medical or genetic therapies are available for any type of EDS.
- Language
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- English
- Open access status
- closed
- Identifiers
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- DOI 10.1038/s41572-020-0194-9
- PMID 32732924
- Persistent URL
- https://sonar.ch/global/documents/226160
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