Polyostotic osteolytic dysplasia, hereditary expansile

Common Name(s)

Polyostotic osteolytic dysplasia, hereditary expansile, Familial expansile osteolysis

Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by {9:Palenzuela et al., 2002} and {4:Elahi et al., 2007}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Polyostotic osteolytic dysplasia, hereditary expansile" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.