Disease Directory Ehlers-Danlos Syndrome
Connective Tissue

Ehlers-Danlos Syndrome

Also known as: EDS, Hypermobile EDS, hEDS, Classical EDS

Prevalence

1 in 5,000 overall (hypermobile type 1 in 3,100–5,000)

Onset

Variable (often childhood or early adulthood)

Type

Disease

Gene

COL5A1, COL5A2, COL3A1, TNXB (varies by subtype)

About Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders affecting collagen synthesis and function. There are 13 classified subtypes, the most common being hypermobile EDS (hEDS) — the only subtype without a confirmed genetic marker. Vascular EDS (vEDS), caused by COL3A1 mutations, carries the greatest risk of arterial rupture and organ perforation. Clinical trials are active in vEDS, classical EDS, and pain management approaches for hEDS. The EDS community is large, vocal, and actively engaged in research.

Common Clinical Features

Joint hypermobility Skin hyperextensibility Chronic pain Joint instability and frequent dislocations Easy bruising Poor wound healing and wide scars Fatigue Autonomic dysfunction (POTS)

Clinical Trial Eligibility Tips

What to know before applying to Ehlers-Danlos Syndrome trials.

EDS subtype determines genetic testing pathways — classical, vascular, kyphoscoliotic, and other subtypes have confirmed genetic markers; hEDS is diagnosed clinically.

Vascular EDS trials require COL3A1 mutation confirmation — get full genetic panel testing from a connective tissue specialist before applying.

The Ehlers-Danlos Society patient registry (HEDGE) connects patients to researchers — registration increases trial notification significantly.

Patient Resources

Patient Organization

The Ehlers-Danlos Society

Visit website ↗

Natural History Registry

HEDGE Registry

Join registry ↗

Orphanet

European reference resource for rare diseases

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Ehlers-Danlos Syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Ehlers-Danlos Syndrome. Updated daily.

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