Camptodactyly–arthropathy–coxa vara–pericarditis syndrome

Also known as: CACP syndrome

Recessive syndrome with non-inflammatory arthropathy, camptodactyly and pericarditis.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Pediatric rheumatology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: PRG4

Etiology & mechanism

Lubricin (PRG4) deficiency.

Gene(s) involved (1)

PRG4

Symptoms & signs (5)

camptodactylycoxa varajoint swellingnon-inflammatory arthropathypericardial effusion

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