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GTR Home > Conditions/Phenotypes > Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Synonyms
Arthropathy camptodactyly syndrome; Congenital familial hypertrophic synovitis; Fibrosing serositis, familial; JACOBS SYNDROME; PAC syndrome; Pericarditis arthropathy camptodactyly syndrome

Summary

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000). [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CACP, HAPO, JCAP, MSF, SZP, PRG4
    Summary: proteoglycan 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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