Winchester syndrome

Also known as: Multicentric osteolysis

Progressive carpal and tarsal osteolysis with joint contractures.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Pediatric rheumatology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: MMP14

Etiology & mechanism

MMP14 deficiency.

Gene(s) involved (1)

MMP14

Symptoms & signs (5)

corneal opacityjoint contracturesosteolysisshort staturethickened skin

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