Vascular Ehlers–Danlos syndrome

Also known as: Ehlers–Danlos syndrome type IV; Sack–Barabas syndrome; vEDS

Collagen disorder with arterial, bowel and uterine rupture.

Medical specialty: Cardiology
Subspecialty: Cardiology / Heritable aortic disease
Sex & age distribution: Male: affected, earlier complications; Female: affected, pregnancy risks; Children: yes, from childhood
Gene(s) involved: COL1A1, COL3A1

Etiology & mechanism

COL3A1 variants cause defective type III collagen.

Gene(s) involved (2)

COL1A1COL3A1

Symptoms & signs (10)

acrogeriaaortic dissectionarterial rupturebowel perforationcharacteristic facial featureseasy bruisingpneumothoraxthin translucent skinuterine rupturevaricose veins

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.