Torg–Winchester syndrome

Also known as: Multicentric osteolysis, nodulosis and arthropathy

Subcutaneous nodules, osteolysis and arthropathy.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Pediatric rheumatology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: MMP2

Etiology & mechanism

MMP2 deficiency.

Gene(s) involved (1)

MMP2

Symptoms & signs (4)

arthropathycoarse faciesosteolysissubcutaneous nodules

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