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GTR Home > Conditions/Phenotypes > Multicentric carpo-tarsal osteolysis with or without nephropathy

Multicentric carpo-tarsal osteolysis with or without nephropathy

Synonyms
Carnevale Canun Mendoza syndrome; MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT; Multicentric Osteolysis of Carpal Bones and Nephropathy; Multicentric osteolysis nephropathy; OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome. [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DURS3, KRML, MCTO, MAFB
    Summary: MAF bZIP transcription factor B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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