Synovial chondromatosis, familial with dwarfism

Overview

Type of disease: Rare conditions

Synovial chondromatosis, familial with dwarfism is a very rare genetic disorder. It is described as a combination of two other conditions, synovial chondromatosis, which affects joints, and dwarfism. Because these two conditions are very rare, scientists think that familial synovial chondromatosis with dwarfism is caused by one gene. This condition affects the joints, which hold bones together. For individuals with this condition, joints grow more than usual and pieces of the joints called cartilage can fall off. These pieces can either take up space in the joint or travel to other body tissues. This usually results in joint pain, swelling of the joint, and loss of motion for the area of the body that is affected. This usually only occurs in one joint, most often the knee, hip, elbow, or shoulder. Individuals also have dwarfism, so they have a very short stature, but they have normal body proportions.

How the condition is passed through families is still unclear but may be autosomal dominant. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition. If a parent carries a copy of the changed gene, each of their children would have a 50% chance of having the condition.

If you or a family member has been diagnosed with this condition, talk with your doctor about the most current treatment options. Usually, surgery can be done to remove the piece of cartilage that has broken off from the joint. Support groups are also good resources of support and information.

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