CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: CAP SYNDROME
HYPERTROPHIC SYNOVITIS, CONGENITAL FAMILIAL
FIBROSING SEROSITIS, FAMILIAL
PAC SYNDROME
CAMPTODACTYLY-ARTHROPATHY-PERICARDITIS SYNDROME
JACOBS SYNDROME
PERICARDITIS-ARTHROPATHY-CAMPTODACTYLY SYNDROME
ARTHROPATHY-CAMPTODACTYLY SYNDROME
CACP
Number of Symptoms 16
OrphanetNr:
OMIM Id: 208250
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001369) Arthritis 44 / 7739
2
(HPO:0005186) Synovial hypertrophy 2 / 7739
3
(HPO:0005197) Generalized morning stiffness 1 / 7739
4
(HPO:0005194) Flattened metatarsal heads 3 / 7739
5
(HPO:0005879) Congenital finger flexion contractures 3 / 7739
6
(HPO:0002812) Coxa vara 58 / 7739
7
(HPO:0011909) Flattened metacarpal heads 2 / 7739
8
(HPO:0001239) Wrist flexion contracture 13 / 7739
9
(HPO:0003040) Arthropathy 19 / 7739
10
(HPO:0002563) Constrictive pericarditis 3 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Polyarticular large joint arthritis 1 / 7739
13
(OMIM) Elbow and wrist contractures 1 / 7739
14
(OMIM) Flattened metacarpal and metatarsal heads 2 / 7739
15
(OMIM) Flattened proximal femoral ossification centers 1 / 7739
16
(OMIM) Normal sedimentation rate 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The camptodactyly-arthropathy-coxa vara-pericarditis syndrome 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 ...
Clinical Description OMIM Jacobs and Downey (1974) and Jacobs et al. (1976) described in brief a familial arthropathy associated with congenital flexion contractures of the fingers and characteristic changes on synovial biopsy. They called it 'E family arthritis,' or 'congenital familial ...
Molecular genetics OMIM Marcelino et al. (1999) identified 4 homozygous deletion mutations in the proteoglycan-4 gene in patients with CACP syndrome; see 604283.0001- 604283.0004. The authors stated that each coding sequence mutation found by them predicted a truncated protein.