Ehlers–Danlos syndrome, vascular type

Also known as: Sack–Barabas syndrome; vEDS

Vascular fragility with arterial, uterine and bowel rupture.

Medical specialty: Genetics
Subspecialty: Genetics / Connective tissue disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: COL3A1

Etiology & mechanism

COL3A1 mutations.

Gene(s) involved (1)

COL3A1

Symptoms & signs (6)

arterial rupturebowel rupturecharacteristic faciesclubfooteasy bruisingthin translucent skin

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