Spondyloenchondrodysplasia with immune dysregulation

Common Name(s)

Spondyloenchondrodysplasia with immune dysregulation

Spondyloenchondrodysplasia with immune dysregulation combines the typical metaphyseal and vertebral bone lesions in spondyloenchondrodysplasia (SPENCD; {271550}) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. It has been suggested by some that the various clinical manifestations observed in association with SPENCD may be pleiotropic manifestations of a single nosologic entity defined by the presence of typical spondylar and metaphyseal changes (summary by {5:Renella et al., 2006}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloenchondrodysplasia with immune dysregulation" for support, advocacy or research.

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Scientific Literature

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The terms "Spondyloenchondrodysplasia with immune dysregulation" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.