camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Term ID

DOID:0090127

Synonyms

• arthropathy-camptodactyly syndrome
• CACP
• CACP syndrome
• camptodactyly-arthropathy-pericarditis syndrome
• CAP syndrome
• congenital familial hypertrophic synovitis
• familial fibrosing serositis
• Jacobs syndrome
• PAC syndrome
• pericarditis-arthropathy-camptodactyly syndrome

Definition

A syndrome that is 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 autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. (2)

References

• MESH:C537560
• OMIM:208250
• ORDO:2848
• SNOMEDCT_US_2023_03_01:771187008
• UMLS_CUI:C1859690

Ontology

Human Disease   ( DOID:0090127 )