Ehlers Danlos

Vereniging van Ehlers Danlos

Description: This webinar is dedicated to recapitulate the role of joint hypermobility in the recent medical history. In particular, the definitions of joint hypermobility, (benign) joint hypemobility syndrome, hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome are presented with the aim to offer a clear picture of the past and moderns concepts around these terms. This is a prerequisite for understanding the current nosology, which intends (i) joint hypermobility as a sign with a wide range of clinical and subclinical presentations, (ii) hypermobility spectrum disorders as descriptors for unspecific phenotypes of symptomatic joint hypermobility, and (iii) hypermobile Ehlers-Danlos syndrome as an exclusion diagnosis for a specific subclass within this spectrum. Now it is clear enough that joint hypermobility is not always detrimental and that it is not always the (unique) explanation for the concurrent musculoskeletal manifestations. On the other side, joint hypermobility and, in particular, its generalized presentation, is quite common in humans and apparently more common in a wide range of genetic conditions, that include but are not limited to the rare forms of Ehlers-Danlos syndromes. Therefore, recognizing joint hypermobility is useful not only for interpreting the accompanying symptoms but also for intercepting syndromic conditions that could otherwise run undetected until more severe complications occur.

• By Marco Castori. (Marco Castori is the Chief of the Division of Medical Genetics and coordinator of the Rare Disease Program at the Foundation IRCCS-Casa Sollievo della Sofferenza (San Giovanni Rotondo, Italy) since 2017. Formerly, he was consultant in Clinical/Medical Genetics at the San Camillo-Forlanini Hospital in Rome (Italy) for 7 years. Dr. Castori is interested in Ehlers-Danlos syndromes and joint hypermobility-related disorders since 2009 and obtained his PhD degree with a project on this topic on 2013. Dr. Castori is fully involved in the clinical, diagnostic and research aspects of hereditary disorders, in particular, soft connective tissue disorders, aortopathies, skeletal dysplasias, multiple malformation syndromes and neurodevelopmental disorders. He is also an external expert of the ReCONNET European Reference Network on rare and uncommon disorders of the musculoskeletal system for the Ehlers-Danlos syndromes).
• Thursday 10th September at 15:00 CET
• Webinar for healthcare professionals
• Organization: European Reference Network on rare. ReCONNET
• Register here:

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