Jacobs Syndrome

Camptodactyly is usually present at birth or surely noticed within the first year of life. Arthropathy typically develops between 3 and 8 years of age. A noninflammatory constrictive pericarditis is often present in the first or second decade of life and may lead to pericardial effusion.

Arthropathy-Camptodactyly Syndrome; Congenital Familial Hypertrophic Synovitis; Familial Fibrosing Serositis; Pericarditis-Arthropathy-Camptodactyly Coxa-Vara Syndrome.

Autosomal recessive; locus resides on chromosome 1q25-q31.

Synovial cell hyperplasia, fibrosis of pericardium.

Histologic examination of synovium shows prominent fibrosis and cell infiltration. Radiologic evidence of flattened metacarpal and metatarsal heads and flattened proximal femoral ossification center. Normal erythrocyte sedimentation rate (ESR).

Childhood-onset noninflammatory arthritis. Congenital finger flexion contractures. Constrictive pericarditis and pleuritis may occur especially when associated with severe effusion. It may lead to organ function restriction. Sedimentation rate is normal. Elbow and wrist contractures may be associated.

Assess temporomandibular involvement (if any), neck movements, and mouth opening. Assess presence of pericardial and pleural effusions: chest radiography, echocardiography, ECG.

Arthritis usually affects the large joints and hands and contractures may be present. It could be affecting patient during positioning. Pericardial and/or pleural effusion may be present. If so, the anesthetic must be tailored to avoid affecting preload and heart rate.

Intraoperative supplementation of corticosteroids must be considered in patients receiving chronic therapy.