familial expansile osteolysis
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familial expansile osteolysisA rare autosomal dominant bone disorder (OMIM:174810) characterised by foci of increased bone remodelling, especially in the long bones beginning in early adulthood, often associated with early-onset deafness and loss of dentition.
Defects in TNFRSF11A, which encodes a member of the TNF receptor family essential for RANKL-mediated osteoclastogenesis, cause familial expansile osteolysis.
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