Klippel–Trénaunay syndrome with neurological involvement

Also known as: KTS

Vascular malformation syndrome.

Medical specialty: Neurology
Subspecialty: Neurology / Vascular neurology; Genetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital
Gene(s) involved: PIK3CA

Etiology & mechanism

Somatic PIK3CA mutations.

Gene(s) involved (1)

PIK3CA

Symptoms & signs (3)

capillary malformationlimb overgrowthvaricose veins

Note

Primarily vascular; neurologic involvement not defining; verify

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