Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Definition:

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Affected individuals present with arthropathy associated with camptodactyly. Some patients have pericarditis with effusions.

References:

[1]. Amaka C Offiah, et al. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. AJR Am J Roentgenol. 2005 Aug;185(2):522-9. [Content Brief]

[2]. Anas M Alazami, et al. Novel PRG4 mutations underlie CACP in Saudi families. Hum Mutat. 2006 Feb;27(2):213. [Content Brief]

[3]. Anthony M Reginato, et al. The role of structural genes in the pathogenesis of osteoarthritic disorders. Arthritis Res. 2002;4(6):337-45. [Content Brief]

[4]. Katayoon Shayan, et al. Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Pediatr Dev Pathol. 2005 Jan-Feb;8(1):26-33. [Content Brief]

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