camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Findings
No curated finding names camptodactyly-arthropathy-coxa vara-pericarditis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
Definition from the Mondo Disease Ontology (MONDO:0008828), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Camptodactyly of toeHPOHP:0001836
- Very frequent (80% to 99% of cases)
- Coxa varaHPOHP:0002812
- Very frequent (80% to 99% of cases)
- Flattened femoral headHPOHP:0008812
- Very frequent (80% to 99% of cases)
- Knee osteoarthritisHPOHP:0005086
- Very frequent (80% to 99% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Mitral regurgitationHPOHP:0001653
- Occasional (5% to 29% of cases)
- Mitral valve prolapseHPOHP:0001634
- Occasional (5% to 29% of cases)
- PericarditisHPOHP:0001701
- Occasional (5% to 29% of cases)
- PleuritisHPOHP:0002102
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- Very rare (1% to 4% of cases)
- Infantile sensorineural hearing impairmentHPOHP:0008610
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRG4HGNC:9364
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Illumina · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- Also called
- arthropathy-camptodactyly syndromeCACPCACP syndromecamptodactyly-arthropathy-pericarditis syndromeJacobs syndromePAC syndromepericarditis-arthropathy-camptodactyly syndrome