Term Name: | camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
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Synonyms: | arthropathy-camptodactyly syndrome, CACP, CACP syndrome, camptodactyly-arthropathy-pericarditis syndrome, CAP syndrome, congenital familial hypertrophic synovitis, familial fibrosing serositis, Jacobs syndrome, PAC syndrome, pericarditis-arthropathy-camptodactyly syndrome |
Definition: | A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. |
Ontology: | Human Disease [DOID:0090127] ( DOID:0090127 ) |