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Camptodactyly-arthropathy-coxa vara-pericarditis syndrome(CACP)

MedGen UID:
349226
•Concept ID:
C1859690
•
Disease or Syndrome
Synonyms: Arthropathy camptodactyly syndrome; Congenital familial hypertrophic synovitis; Fibrosing serositis, familial; JACOBS SYNDROME; PAC syndrome; Pericarditis arthropathy camptodactyly syndrome
SNOMED CT: Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome (771187008); Arthropathy camptodactyly syndrome (771187008); Pericarditis, arthropathy, camptodactyly syndrome (771187008); Jacobs syndrome (771187008); CACP (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome (771187008); CACP syndrome (771187008)
 
Gene (location): PRG4 (1q31.1)
 
Monarch Initiative: MONDO:0008828
OMIM®: 208250
Orphanet: ORPHA2848

Definition

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]

Clinical features

From HPO
Flattened metacarpal heads
MedGen UID:
868729
•Concept ID:
C4023134
•
Anatomical Abnormality
Abnormally flat shape of the heads of the metacarpal bones.
See: Feature record | Search on this feature
Flattened metatarsal heads
MedGen UID:
870783
•Concept ID:
C4025240
•
Anatomical Abnormality
Abnormally flat shape of the heads of the metatarsal bones.
See: Feature record | Search on this feature
Coxa vara
MedGen UID:
1790477
•Concept ID:
C5551440
•
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
See: Feature record | Search on this feature
Arthritis
MedGen UID:
2043
•Concept ID:
C0003864
•
Disease or Syndrome
Inflammation of a joint.
See: Feature record | Search on this feature
Arthropathy
MedGen UID:
7190
•Concept ID:
C0022408
•
Disease or Syndrome
Any disorder of the joints.
See: Feature record | Search on this feature
Wrist flexion contracture
MedGen UID:
592338
•Concept ID:
C0409345
•
Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
See: Search on this feature
Synovial lining hyperplasia
MedGen UID:
140824
•Concept ID:
C0410574
•
Disease or Syndrome
Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.
See: Feature record | Search on this feature
Congenital finger flexion contractures
MedGen UID:
234659
•Concept ID:
C1393871
•
Congenital Abnormality
Multiple bent (flexed) finger joints that cannot be straightened actively or passively.
See: Feature record | Search on this feature
Generalized morning stiffness
MedGen UID:
870781
•Concept ID:
C4025238
•
Finding
A sensation of stiffness in the joints that occurs following waking up in the morning.
See: Feature record | Search on this feature
Constrictive pericarditis
MedGen UID:
18378
•Concept ID:
C0031048
•
Disease or Syndrome
Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCamptodactyly-arthropathy-coxa vara-pericarditis syndrome

Professional guidelines

PubMed

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B
Mol Genet Genomic Med 2018 Mar;6(2):230-248. Epub 2018 Feb 4 doi: 10.1002/mgg3.364. PMID: 29397575Free PMC Article
Lubricin: a novel potential biotherapeutic approaches for the treatment of osteoarthritis.
Bao JP, Chen WP, Wu LD
Mol Biol Rep 2011 Jun;38(5):2879-85. Epub 2010 Jan 23 doi: 10.1007/s11033-010-9949-9. PMID: 20099082

Recent clinical studies

Etiology

Monogenic disorders as mimics of juvenile idiopathic arthritis.
Furness L, Riley P, Wright N, Banka S, Eyre S, Jackson A, Briggs TA
Pediatr Rheumatol Online J 2022 Jun 18;20(1):44. doi: 10.1186/s12969-022-00700-y. PMID: 35717242Free PMC Article
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B
Mol Genet Genomic Med 2018 Mar;6(2):230-248. Epub 2018 Feb 4 doi: 10.1002/mgg3.364. PMID: 29397575Free PMC Article
Molecular signatures and new candidates to target the pathogenesis of rheumatoid arthritis.
Ungethuem U, Haeupl T, Witt H, Koczan D, Krenn V, Huber H, von Helversen TM, Drungowski M, Seyfert C, Zacher J, Pruss A, Neidel J, Lehrach H, Thiesen HJ, Ruiz P, Bläss S
Physiol Genomics 2010 Nov 29;42A(4):267-82. Epub 2010 Sep 21 doi: 10.1152/physiolgenomics.00004.2010. PMID: 20858714

Diagnosis

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Sathiyaseelan SL, Krishna K, Agarwal D, Oswal JS
BMJ Case Rep 2024 Jul 1;17(7) doi: 10.1136/bcr-2024-260146. PMID: 38955384
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Singh S, Badiger VA, Balan S, Nampoothiri S, Rao AP, Shah H, Bhavani GS, Narayanan DL, Girisha KM
Clin Dysmorphol 2024 Oct 1;33(4):152-159. Epub 2024 Mar 22 doi: 10.1097/MCD.0000000000000500. PMID: 38856641
"Lessons from Rare Forms of Osteoarthritis".
Shepherd RF, Kerns JG, Ranganath LR, Gallagher JA, Taylor AM
Calcif Tissue Int 2021 Sep;109(3):291-302. Epub 2021 Aug 21 doi: 10.1007/s00223-021-00896-3. PMID: 34417863Free PMC Article
Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Johnson N, Chaudhary H, Kumrah R, Pilania RK, Sharma Y, Sharma A, Kaur A, Mukherjee S, Kakkar N, Vignesh P
Rheumatol Int 2021 Oct;41(10):1875-1882. Epub 2020 Aug 19 doi: 10.1007/s00296-020-04688-0. PMID: 32813152
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review.
Albtoush OM, Taib AA, Manzalawi KA, Mahafza WS
Rofo 2018 Sep;190(9):856-858. Epub 2017 Nov 20 doi: 10.1055/s-0043-120765. PMID: 29156476

Therapy

Lubricin: a novel potential biotherapeutic approaches for the treatment of osteoarthritis.
Bao JP, Chen WP, Wu LD
Mol Biol Rep 2011 Jun;38(5):2879-85. Epub 2010 Jan 23 doi: 10.1007/s11033-010-9949-9. PMID: 20099082

Prognosis

"Lessons from Rare Forms of Osteoarthritis".
Shepherd RF, Kerns JG, Ranganath LR, Gallagher JA, Taylor AM
Calcif Tissue Int 2021 Sep;109(3):291-302. Epub 2021 Aug 21 doi: 10.1007/s00223-021-00896-3. PMID: 34417863Free PMC Article
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.
Basit S, Iqbal Z, Umicevic-Mirkov M, Kamran Ul-Hassan Naqvi S, Coenen M, Ansar M, van Bokhoven H, Ahmad W
Arch Med Res 2011 Feb;42(2):110-4. doi: 10.1016/j.arcmed.2011.04.006. PMID: 21565623
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Faivre L, Prieur AM, Le Merrer M, Hayem F, Penet C, Woo P, Hofer M, Dagoneau N, Sermet I, Munnich A, Cormier-Daire V
Am J Med Genet 2000 Nov 27;95(3):233-6. doi: 10.1002/1096-8628(20001127)95:3<233::aid-ajmg9>3.0.co;2-3. PMID: 11102929

Clinical prediction guides

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Singh S, Badiger VA, Balan S, Nampoothiri S, Rao AP, Shah H, Bhavani GS, Narayanan DL, Girisha KM
Clin Dysmorphol 2024 Oct 1;33(4):152-159. Epub 2024 Mar 22 doi: 10.1097/MCD.0000000000000500. PMID: 38856641
"Lessons from Rare Forms of Osteoarthritis".
Shepherd RF, Kerns JG, Ranganath LR, Gallagher JA, Taylor AM
Calcif Tissue Int 2021 Sep;109(3):291-302. Epub 2021 Aug 21 doi: 10.1007/s00223-021-00896-3. PMID: 34417863Free PMC Article
Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Murphy JM, Vanderhave KL, Urquhart AG
J Arthroplasty 2012 Sep;27(8):1581.e5-8. Epub 2012 Mar 3 doi: 10.1016/j.arth.2012.01.007. PMID: 22386609
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.
Basit S, Iqbal Z, Umicevic-Mirkov M, Kamran Ul-Hassan Naqvi S, Coenen M, Ansar M, van Bokhoven H, Ahmad W
Arch Med Res 2011 Feb;42(2):110-4. doi: 10.1016/j.arcmed.2011.04.006. PMID: 21565623
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.
Bahabri SA, Suwairi WM, Laxer RM, Polinkovsky A, Dalaan AA, Warman ML
Arthritis Rheum 1998 Apr;41(4):730-5. doi: 10.1002/1529-0131(199804)41:4<730::AID-ART22>3.0.CO;2-Y. PMID: 9550484

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