ISSN : 2146-3123
E-ISSN : 2146-3131

Updates in Clinical and Genetics Aspects of Hypermobile Ehlers Danlos Syndrome
Irman Forghani1
1Clinic of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, USA
DOI : 10.4274/balkanmedj.2018.1113
Pages : 12-16


Efforts on recognition, diagnosis, and management of the presumed, most common connective tissue disorder hypermobile Ehlers-Danlos syndrome have been an ongoing challenge, even decades after the description of this condition. A recent international consortium proposed a revised Ehlers-Danlos syndrome classification, an update much needed since Villefranche nosology, in 1998. Hypermobile Ehlers-Danlos syndrome is the only subtype in these groups of syndromes with no known genetic cause(s). This effort brought significant attention to this often underappreciated condition. This review provides an update of the clinical and genetic aspects of hypermobile Ehlers-Danlos syndrome for clinicians and researchers.

Keywords : Ehlers-Danlos syndrome, classification, joint hypermobility, hypermobility spectrum disorder
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