Radioulnar synostosis with amegakaryocytic thrombocytopenia

Common Name(s)

Radioulnar synostosis with amegakaryocytic thrombocytopenia

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}). Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; {616738}) is caused by heterozygous mutation in the MECOM gene ({165215}) on chromosome 3q26.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Radioulnar synostosis with amegakaryocytic thrombocytopenia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

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The terms "Radioulnar synostosis with amegakaryocytic thrombocytopenia" 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.