Visualize
Metadata
DOID DOID:0090127
Name camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Definition An autosomal recessive disease characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in homozygous mutation in the PRG4 gene on chromosome 1q31.
Synonyms

arthropathy-camptodactyly syndrome [EXACT]

CACP [EXACT]

CACP syndrome [EXACT]

camptodactyly-arthropathy-pericarditis syndrome [EXACT]

CAP syndrome [EXACT]

congenital familial hypertrophic synovitis [EXACT]

familial fibrosing serositis [EXACT]

Jacobs syndrome [EXACT]

PAC syndrome [EXACT]

pericarditis-arthropathy-camptodactyly syndrome [EXACT]

Xrefs

MESH:C537560

OMIM:208250

ORDO:2848

UMLS_CUI:C1859690

Relationships

is_a autosomal recessive disease

Add an item to the term tracker