camptodactyly-arthropathy-coxa vara-pericarditis syndrome

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_ba

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.

Signs and symptoms

• Constrictive pericarditis
• Flattened metacarpal heads
• Arthropathy
• Synovial lining hyperplasia
• Generalized morning stiffness
• Wrist flexion contracture
• Coxa vara
• Flattened metatarsal heads
• Congenital finger flexion contractures
• Arthritis

Also known as: CACP; CACP syndrome; CAP syndrome; Jacobs syndrome; PAC syndrome