Hypermobile EDS and Hypermobility Spectrum Disorders: What is the difference

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.
More info about EDS can be found here: https://reconnet.ern-net.eu/disease-eds/

Speaker:
Dr. Marco Castori is the Chief of the Division of Medical Genetics at the IRCCS-Casa Sollievo della Sofferenza Hospital in San Giovanni Rotondo (Foggia, Italy). He is a Clinical/Medical Geneticist and obtained his PhD with a project on the Ehlers-Danlos syndromes and related disorders. Joint hypermobility and hereditary connective tissue disorders are his major research topics. Additional research focuses include intellectual disability/multiple malformation syndromes and hereditary skin disorders. Marco Castori is a Member of the Medical and Scientific Board of the Ehlers-Danlos Society.