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-cam`todactyly 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
As of 2000, 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 to 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.
Prognosis
As of 2000, 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.
