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Chronic multifocal osteomyelitis

Synonyms
Chronic recurrent multifocal osteomyelitis
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Chronic recurrent multifocal osteomyelitis-3 (CRMO3) is an autosomal dominant autoinflammatory bone disease characterized by early childhood onset of bone pain and arthritis caused by sterile osteomyelitis. The disorder results from constitutive activation of the IL1-mediated inflammatory pathway due to loss of IL1 receptor sensitivity to its antagonist IL1RN (147679). et al. (2023) suggested the term 'Loss of IL1R1 Sensitivity to IL1RA (IL1RN)' or 'LIRSA' as a designation for this disorder. For a discussion of genetic heterogeneity of CRMO, see 609628. [from OMIM]

Genes See tests for all associated and related genes

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Clinical features

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Imported from Human Phenotype Ontology (HPO)

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