title: The 2017 international classification of the Ehlers-Danlos syndromes.
abstract: The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.
authors.forename: Fransiska
authors.initials: F
authors.lastname: Malfait
authors.forename: Clair
authors.initials: C
authors.lastname: Francomano
authors.forename: Peter
authors.initials: P
authors.lastname: Byers
authors.forename: John
authors.initials: J
authors.lastname: Belmont
authors.forename: Britta
authors.initials: B
authors.lastname: Berglund
authors.forename: James
authors.initials: J
authors.lastname: Black
authors.forename: Lara
authors.initials: L
authors.lastname: Bloom
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Bowen
authors.forename: Angela F
authors.initials: AF
authors.lastname: Brady
authors.forename: Nigel P
authors.initials: NP
authors.lastname: Burrows
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Helen
authors.initials: H
authors.lastname: Cohen
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
authors.forename: Serwet
authors.initials: S
authors.lastname: Demirdas
authors.forename: Julie
authors.initials: J
authors.lastname: De Backer
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
authors.forename: Sylvie
authors.initials: S
authors.lastname: Fournel-Gigleux
authors.forename: Michael
authors.initials: M
authors.lastname: Frank
authors.forename: Neeti
authors.initials: N
authors.lastname: Ghali
authors.forename: Cecilia
authors.initials: C
authors.lastname: Giunta
authors.forename: Rodney
authors.initials: R
authors.lastname: Grahame
authors.forename: Alan
authors.initials: A
authors.lastname: Hakim
authors.forename: Xavier
authors.initials: X
authors.lastname: Jeunemaitre
authors.forename: Diana
authors.initials: D
authors.lastname: Johnson
authors.forename: Birgit
authors.initials: B
authors.lastname: Juul-Kristensen
authors.forename: Ines
authors.initials: I
authors.lastname: Kapferer-Seebacher
authors.forename: Hanadi
authors.initials: H
authors.lastname: Kazkaz
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Mark E
authors.initials: ME
authors.lastname: Lavallee
authors.forename: Howard
authors.initials: H
authors.lastname: Levy
authors.forename: Roberto
authors.initials: R
authors.lastname: Mendoza-Londono
authors.forename: Melanie
authors.initials: M
authors.lastname: Pepin
authors.forename: F Michael
authors.initials: FM
authors.lastname: Pope
authors.forename: Eyal
authors.initials: E
authors.lastname: Reinstein
authors.forename: Leema
authors.initials: L
authors.lastname: Robert
authors.forename: Marianne
authors.initials: M
authors.lastname: Rohrbach
authors.forename: Lynn
authors.initials: L
authors.lastname: Sanders
authors.forename: Glenda J
authors.initials: GJ
authors.lastname: Sobey
authors.forename: Tim
authors.initials: T
authors.lastname: Van Damme
authors.forename: Anthony
authors.initials: A
authors.lastname: Vandersteen
authors.forename: Caroline
authors.initials: C
authors.lastname: van Mourik
authors.forename: Nicol
authors.initials: N
authors.lastname: Voermans
authors.forename: Nigel
authors.initials: N
authors.lastname: Wheeldon
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Brad
authors.initials: B
authors.lastname: Tinkle
mesh_terms: D003094:Collagen / Q000235:genetics; D003240:Connective Tissue Diseases / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation; D017410:Practice Guidelines as Topic
chemical_list: D003094:Collagen
keywords: Ehlers-Danlos syndromes; classification; collagen; genetic basis