Arthropathy-camptodactyly syndrome

Definition

Arthropathy-camptodactyly syndrome is a disorder affecting the joints of the fingers. Arthropathy refers to a disease or disorder affecting a joint, and camptodactyly is a congenital condition, meaning present at birth, characterized by the bending of one or more fingers.

Description

In people with arthropathy-camptodactyly syndrome, one or more fingers are bent. Other joints may be affected as well–some children with arthropathy-camptodactyly syndrome also have swollen knees and ankles, and hip pain.

Problems with the pericardium, the sac that surrounds the heart, are also common in children with arthropathy-camptodactyly syndrome. In many cases the pericardium is removed, a surgical procedure called pericardiectomy.

Genetic profile

Arthropathy-camptodactyly syndrome typically occurs in children (both male and female) whose parents are related by blood. In one case, it was determined that the parents of children with arthropathy-camptodactyly syndrome shared the haplotype A1-Bw21. The gene map locus 1q24-q25 is also implicated.

Demographics

Cases of arthropathy-camptodactyly syndrome have been diagnosed in Canada, India, Mexico, Newfoundland, Pakistan, Saudi Arabia, and Turkey, as well as in African Americans.

Signs and symptoms

People with arthropathy-camptodactyly syndrome have a bend in the joint of one or more fingers. Other symptoms include swollen knees and ankles, and hip pain.

Inflammation of the sac lining the heart (pericarditis) is another observed symptom, often accompanied by chest pain. The pain is usually sharp, and felt behind the breast bone (sternum).

Diagnosis

Aside from the physical observation of bent fingers, no test is presently available to confirm diagnosis.

Treatment and management

Surgery can correct the bent fingers disorder that characterizes arthropathy-camptodactyly syndrome. Removal of the tendon sheaths in the affected fingers can help keep them mobile. Removal of the membranes surrounding a joint (synovectomy) of other body joints, such as knees, can also help maintain mobility.

In at least one case, a bent finger straightened without intervention.

Pericardiectomy is often performed to relieve the pericarditis often associated with the disorder.

KEY TERMS

Arthropathy

—Any disease or disorder that affects joints.

Prognosis

Case studies show that children with arthropathy-camptodactyly syndrome have lived into their teens. There is reason to believe that with the proper treatment, the disorder is not life-shortening.

Resources

PERIODICALS

Athreya, B. H., and H. R. Schumacher. "Pathologic features of a familial arthropathy associated with congenital flexion contractures of fingers." Arthritis and Rheumatism 21 (1978): 429-437.

Bahabri, S. A., et al. "The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1." Arthritis and Rheumatism 41 (1998): 730-735.

Bulutlar, G., H. Yazici, H. Ozdogan, and I. Schreuder. "A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara." Arthritis and Rheumatism 29 (1986): 436-438.

Martin, J. R., et al. "Congenital contractural deformities of the fingers and arthropathy." Annals of the Rheumatic Diseases 44 (1985): 826-830.

Suwairi, W. M., et al. "Autosomal recessive camptodactylyarthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to chromosome 1q25-31." (Abstract) American Journal of Human Genetics 61 (supplement, 1997): A48.

WEBSITES

"Entry 208250: Arthropathy-Camptodactyly Syndrome." National Center for Biotechnology Information, Online Mendelian Inheritance in Man<http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?208250>.

Sonya Kunkle