Familial expansile osteolysis

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Familial expansile osteolysis

Synonyms: Hereditary expansile polyostotic osteolytic dysplasia | McCabe disease

A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain deformity pathological fractures early conductive hearing loss and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal progressive nature of the disease. Age of onset is variable mode of inheritance is autosomal dominant.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Familial expansile osteolysis?

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