Phenotypes associated with the disease camptodactyly-arthropathy-coxa vara-pericarditis syndrome (OMIM:208250):
- Constrictive pericarditis (HP:0002563): Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. Evidence: IEA. (OMIM:208250)
- Flattened metacarpal heads (HP:0011909): Abnormally flat shape of the heads of the metacarpal bones. Evidence: TAS. (OMIM:208250)
- Arthropathy (HP:0003040). Evidence: IEA. (OMIM:208250)
- Synovial lining hyperplasia (HP:0005186): Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically. Evidence: IEA. (OMIM:208250)
- Generalized morning stiffness (HP:0005197): A sensation of stiffness in the joints that occurs following waking up in the morning. Evidence: IEA. (OMIM:208250)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:208250)
- Wrist flexion contracture (HP:0001239): 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. Evidence: IEA. (OMIM:208250)
- Coxa vara (HP:0002812): 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. Evidence: IEA. (OMIM:208250)
- Flattened metatarsal heads (HP:0005194): Abnormally flat shape of the heads of the metatarsal bones. Evidence: TAS. (OMIM:208250)
- Congenital finger flexion contractures (HP:0005879): Multiple bent (flexed) finger joints that cannot be straightened actively or passively. Evidence: IEA. (OMIM:208250)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: IEA. (OMIM:208250)