Familial expansile osteolysis

What is Familial expansile osteolysis?

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.

Other condition names

  • Hereditary expansile polyostotic osteolytic dysplasia
  • McCabe disease

Inheritance type

Autosomal dominant

Age of Onset

  • Adolescent
  • Adult
  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.