EDS is usually first suspected due to clinical presentation such as skin hyperextensibility, atrophic scars, and shoulder dislocation. It is thought that many milder cases of EDS go undiagnosed. Diagnosis of EDS can be confirmed via genetic testing to identify the responsible gene and variant of EDS. Interestingly, the most common type of EDS (hypermobile) does not have an identified molecular and genetic cause.[1] [2]
References
- ^Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle BThe 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet.(2017-03)
- ^Miklovic T, Sieg VCEhlers-Danlos SyndromeStatPearls.(2023-01)