Proteus syndrome

Also known as: Wiedemann syndrome

Mosaic progressive asymmetric overgrowth.

Medical specialty: Dermatology
Subspecialty: Dermatology / Vascular anomalies
Sex & age distribution: Male: affected; Female: affected, slight male predominance; Children: yes, onset in first 2 years
Gene(s) involved: AKT1

Etiology & mechanism

Somatic AKT1 activating mutation.

Gene(s) involved (1)

AKT1

Symptoms & signs (7)

asymmetric overgrowthcerebriform connective tissue nevusepidermal nevilipomasscoliosisthrombosisvascular malformations

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