camptodactyly-arthropathy-coxa vara-pericarditis syndrome

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camptodactyly-arthropathy-coxa vara-pericarditis syndrome2016-11-25T01:57:30+00:00

camptodactyly-arthropathy-coxa vara-pericarditis syndrome  

ORTHOPAEDICS

An autosomal recessive disorder (OMIM:208250) characterised by camptodactyly, arthropathy, coxa vara, and pericarditis that develop with advancing age resulting in joint failure and noninflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule.  

Molecular pathology Defects of PRG4, which encodes a proteoglycan that acts as a lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid, cause camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 

Synonyms Arthropathy-camptodactyly syndrome, camptodactyly-arthropathy-pericarditis syndrome, CAP syndrome, fibrosing serositis—familial, hypertrophic synovitis—congenital familial, Jacobs syndrome, PAC syndrome, pericarditis—arthropathy—camptodactyly syndrome

References http://www.uniprot.org/uniprot/P04553 

http://www.omim.org/entry/208250

 

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