Rothmund–Thomson syndrome

Also known as: Poikiloderma congenitale

Poikiloderma with skeletal anomalies and cancer predisposition.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, rash from 3–6 months
Gene(s) involved: ANAPC1, RECQL4

Etiology & mechanism

Defective RECQL4 helicase function causing genomic instability.

Gene(s) involved (2)

ANAPC1RECQL4

Symptoms & signs (7)

cataractsosteosarcomaphotosensitivitypoikilodermashort statureskeletal anomaliessparse hair

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