Klippel–Trénaunay syndrome

Also known as: KTS

Capillary malformation, venous malformation and limb overgrowth.

Medical specialty: Cardiology
Subspecialty: Cardiology / Vascular medicine
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: PIK3CA

Etiology & mechanism

Somatic PIK3CA activating mosaic variants.

Gene(s) involved (1)

PIK3CA

Symptoms & signs (6)

limb overgrowthlymphatic anomaliesport-wine stainthrombosisvaricose veinsvenous insufficiency

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