Parkes Weber syndrome

Also known as: Capillary malformation-arteriovenous malformation syndrome

Limb overgrowth with capillary malformations and arteriovenous fistulas.

Medical specialty: Cardiology
Subspecialty: Cardiology / Vascular medicine
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: EPHB4, RASA1

Etiology & mechanism

RASA1 loss.

Gene(s) involved (2)

EPHB4RASA1

Symptoms & signs (5)

arteriovenous fistulahigh-output heart failurelimb overgrowthpink stainswarm limb

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