Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome

vEDS

Vascular EDS is caused by pathogenic variants in COL3A1 and carries the highest risk of arterial, uterine, and hollow-organ rupture among EDS types. The clinical picture may include thin skin, easy bruising, and a characteristic facial appearance, but severity varies. Patients benefit from specialized multidisciplinary care and avoidance of invasive procedures when alternatives exist.

Prevalence
1 in 50,000-200,000
Inheritance
Autosomal dominant (COL3A1)
Screened at Birth
No
On RUSP
No

About This Data

This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.