The 2017 international classification of the Ehlers-Danlos syndromes.

doi:10.1002/ajmg.c.31552

Article

The 2017 international classification of the Ehlers-Danlos syndromes.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2017

Malfait Fransiska, Francomano Clair, Byers Peter, Belmont John, Berglund Britta, Black James, Bloom Lara, Bowen Jessica M, Brady Angela F, Burrows Nigel P, Castori Marco, Cohen Helen, Colombi Marina, Demirdas Serwet, De Backer Julie, De Paepe Anne, Fournel-Gigleux Sylvie, Frank Michael, Ghali Neeti, Giunta Cecilia, Grahame Rodney, Hakim Alan, Jeunemaitre Xavier, Johnson Diana, Juul-Kristensen Birgit, Kapferer-Seebacher Ines, Kazkaz Hanadi, Kosho Tomoki, Lavallee Mark E, Levy Howard, Mendoza-Londono Roberto, Pepin Melanie, Pope F Michael, Reinstein Eyal, Robert Leema, Rohrbach Marianne, Sanders Lynn, Sobey Glenda J, Van Damme Tim, Vandersteen Anthony, van Mourik Caroline, Voermans Nicol, Wheeldon Nigel, Zschocke Johannes, Tinkle Brad

Abstract excerpt

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...

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