2017 | FRANSISKA MALFAIT,* CLAIR FRANCOMANO, PETER BYERS, JOHN BELMONT, BRITTA BERGLUND, JAMES BLACK, LARA BLOOM, JESSICA M. BOWEN, ANGELA F. BRADY, NIGEL P. BURROWS, MARCO CASTORI, HELEN COHEN, MARINA COLOMBI, SERWET DEMIRDAS, JULIE DE BACKER, ANNE DE PAEPE, SYLVIE FOURNEL-GIGLEUX, MICHAEL FRANK, NEETI GHALI, CECILIA GIUNTA, RODNEY GRAHAME, ALAN HAKIM, XAVIER JEUNEMAITRE, DIANA JOHNSON, BIRGIT JUUL-KRISTENSEN, INES KAPFERER-SEEBACHER, HANADI KAZKAZ, TOMOKI KOSHO, MARK E. LAVALLEE, HOWARD LEVY, ROBERTO MENDOZA-LONDONO, MELANIE PEPIN, F. MICHAEL POPE, EYAL REINSTEIN, LEEMA ROBERT, MARIANNE ROHRBACH, LYNN SANDERS, GLENDA J. SOBEY, TIM VAN DAMME, ANTHONY VANDERSTEEN, CAROLINE VAN MOURIK, NICOL VOERMANS, NIGEL WHEELDON, JOHANNES ZSCHOCKE, AND BRAD TINKLE
The 2017 International Classification of the Ehlers–Danlos Syndromes (EDS) proposes a revised classification that recognizes 13 subtypes, recognizing the vast genetic heterogeneity and phenotypic variability of EDS. The classification maintains a clinical classification with descriptive names for each subtype, while also providing a pathogenetic scheme to group subtypes based on shared causative proteins. For each subtype, clinical criteria are proposed to aid diagnosis, though molecular confirmation is essential for definitive diagnosis, except for the hypermobile type (hEDS). The hEDS diagnosis remains clinical due to the lack of a reliable genetic test, but specific criteria are provided to reduce heterogeneity and guide future research. The classification aims to serve as a new standard for diagnosis and provide a framework for future research.The 2017 International Classification of the Ehlers–Danlos Syndromes (EDS) proposes a revised classification that recognizes 13 subtypes, recognizing the vast genetic heterogeneity and phenotypic variability of EDS. The classification maintains a clinical classification with descriptive names for each subtype, while also providing a pathogenetic scheme to group subtypes based on shared causative proteins. For each subtype, clinical criteria are proposed to aid diagnosis, though molecular confirmation is essential for definitive diagnosis, except for the hypermobile type (hEDS). The hEDS diagnosis remains clinical due to the lack of a reliable genetic test, but specific criteria are provided to reduce heterogeneity and guide future research. The classification aims to serve as a new standard for diagnosis and provide a framework for future research.