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camptodactyly-arthropathy-coxa vara-pericarditis syndrome (Jacobs syndrome)
Pathology:
- noninflammatory synoviocyte hyperplasia
- subintimal fibrosis of synovial capsule
Genetics:
- autosomal recessive
- associated with defects in PRG4
Clinical manifestations:
- normal appearing joints at birth
- with advancing age, develop joint failure (see pathology)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 208250
References
OMIM :accession 208250