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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): Gene(s) directly associated with this condition or phenotype.	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.

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Flattened metatarsal heads

MedGen UID:: 870783
•Concept ID:: C4025240
•: Anatomical Abnormality

Abnormally flat shape of the heads of the metatarsal bones.

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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.

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Arthritis

MedGen UID:: 2043
•Concept ID:: C0003864
•: Disease or Syndrome

Inflammation of a joint.

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Arthropathy

MedGen UID:: 7190
•Concept ID:: C0022408
•: Disease or Syndrome

Any disorder of the joints.

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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.

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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.

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Congenital finger flexion contractures

MedGen UID:: 234659
•Concept ID:: C1393871
•: Congenital Abnormality

Multiple bent (flexed) finger joints that cannot be straightened actively or passively.

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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.

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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.

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Abnormality of limbs
Abnormality of the immune system
- Constrictive pericarditis
Abnormality of the musculoskeletal system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCamptodactyly-arthropathy-coxa vara-pericarditis syndrome

Genetic systemic or rheumatologic disease
- Camptodactyly-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: 29397575 Free 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

See all (2)

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: 35717242 Free PMC Article

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

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

See all (3)

Diagnosis

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis.

Şimşekli D, Ayabakan C, Oktay A, Arnaz A, Mahmudov V, Yalçınbaş YK
Turk J Pediatr 2024;66(1):134-138. doi: 10.24953/turkjped.2023.647. PMID: 38523390

"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: 34417863 Free 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

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy.

Offiah AC, Woo P, Prieur AM, Hasson N, Hall CM
AJR Am J Roentgenol 2005 Aug;185(2):522-9. doi: 10.2214/ajr.185.2.01850522. PMID: 16037531

See all (10)

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

See all (1)

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: 34417863 Free 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

See all (3)

Clinical prediction guides

"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: 34417863 Free 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

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

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

See all (6)

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

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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