Werner syndrome

Also known as: Adult progeria

Adult-onset progeroid syndrome with diabetes, cataracts and cancer risk.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Genetic endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, adolescent growth failure; adult onset
Gene(s) involved: WRN

Etiology & mechanism

WRN helicase deficiency causes genomic instability.

Gene(s) involved (1)

WRN

Symptoms & signs (9)

atherosclerosiscataractsdiabetesosteoporosispremature grayingsarcomascleroderma-like skinshort staturesoft tissue calcification

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