Cockayne syndrome

Also known as: Neill–Dingwall syndrome

Photosensitivity with growth failure and progressive neurodegeneration.

Medical specialty: Dermatology
Subspecialty: Dermatology / DNA repair disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, onset in early childhood
Gene(s) involved: ERCC2, ERCC3, ERCC6, ERCC8, XPG

Etiology & mechanism

Defective transcription-coupled DNA repair.

Gene(s) involved (5)

ERCC2ERCC3ERCC6ERCC8XPG

Symptoms & signs (8)

cachexiadental cariesdevelopmental delaygrowth failurehearing lossmicrocephalyphotosensitivityretinopathy

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