Fransiska Malfait - The Rarest Types of EDS

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. The 2017 International EDS Classification recognizes 13 EDS subtypes, for which defects have been identified in 19 different genes that code for extracellular matrix proteins. Some of these conditions are very rare; these are usually very complex and multisystemic conditions. During this webinar, the clinical presentation and (molecular) diagnosis of these rarest EDS subtypes is discussed and illustrated, and management tips are discussed.