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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. [ABSTRACT FROM AUTHOR]

The term Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis. [ABSTRACT FROM AUTHOR]