Living with Multicentric carpo-tarsal osteolysis with or without nephropathy
A very rare condition in which wrist and ankle bones gradually break down, often with kidney disease.
Understanding Multicentric carpo-tarsal osteolysis with or without nephropathy
Bone loss, usually in the carpal (wrist) and tarsal (ankle) bones, leads to deformity and disability. Chronic kidney failure occurs in many cases. The bone and kidney problems are sometimes linked with intellectual disability and facial differences. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breakdown of wrist and hand bones (osteolysis)
- Wrist swelling
- Limited joint movement
- Kidney disease (nephropathy)
- Changes in how a person walks
- Small lower jaw
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in MAFB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the MAFB gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: carnevale canun mendoza syndrome; idiopathic multicentric osteolysis with or without nephropathy; multicentric carpotarsal osteolysis syndrome; multicentric carpotarsal osteolysis with or without nephropathy; multicentric osteolysis of carpal bones and nephropathy; multicentric osteolysis, autosomal dominant
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Multicentric carpo-tarsal osteolysis with or without nephropathy.
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