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]
How is Ehlers-Danlos syndrome (EDS) diagnosed?
Written by:
Fact-checked
by:
•Last Updated: May 16, 2025
Ehlers-Danlos syndrome (EDS) is typically suspected based on clinical signs like skin hyperextensibility and shoulder dislocation, though many milder cases may remain undiagnosed. Diagnosis can be confirmed through genetic testing, although the most common type, hypermobile EDS, lacks a known genetic cause.