Multicentric carpo-tarsal osteolysis

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Multicentric carpo-tarsal osteolysis with or without nephropathy

ORPHA:2774Malformation syndrome

Also called Idiopathic multicentric osteolysis with or without nephropathy

What it is

A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

Key facts

Age of onset
Childhood
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

MAFBDisease-causing germline mutation(s)

ICD-10 codes

M89.5filed under a broader ICD-10 category — shared with 8 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MESH C567171MONDO 0008152OMIM 166300UMLS C2674705

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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