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
Newly diagnosed with
Familial expansile osteolysis?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.