Multicentric carpotarsal osteolysis syndrome

Disease Overview

Multicentric carpotarsal osteolysis syndrome is a very rare condition characterized by progressive loss of some of the bones of the hand and feet, usually the carpal (bones of the wrist) and tarsal bones (bones of the ankle), as well as chronic kidney (renal) failure in many cases. The bone problems lead to deformity and disability. Some patients also have intellectual disability and facial abnormalities.[12521][12522] It is caused by mutations in the MAFB gene.[12522] Autosomal dominant inheritance has been described in many families but most cases are sporadic.[12523] Treatment is with long-term immunosuppressive therapy.[12524]

Synonyms

• Multicentric carpo-tarsal osteolysis with or without nephropathy
• Idiopathic multicentric osteolysis with or without nephropathy