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'''Familial expansile osteolysis''', also known as '''Hereditary expansile polyostotic osteolytic dysplasia''' or '''McCabe disease''', is a rare autosomal dominant disorder with symptoms primarily affecting the osseous and auditory systems of the body. |
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Signs of this condition can start at any age in people, symptoms include bone pain, osteolytic lesions of the appendicular skeleton, recurrent bone fractures, early-onset conductive deafness, bowing of the long bones, tooth fractures, early-onset dentition loss, and progressive onset of [[tooth mobility]]. [[Middle ear ossicles]] are absent in some patients with this condition |
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== Complications == |
== Complications == |
Revision as of 18:36, 1 January 2023
Complications
Genetics
This condition is caused by mutations in the TNFRSF11A gene, located in chromosome 18. Most of the mutations that have been described in medical literature have been small insertion mutations that are a few base pairs long.
Diagnosis
Treatment
Prevalence
History
References
Potential references
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85195
https://rarediseases.info.nih.gov/diseases/9168/index
https://rarediseases.org/gard-rare-disease/polyostotic-osteolytic-dysplasia-hereditary-expansile/