DK Phocomelia Syndrome

Common Name(s)

DK Phocomelia Syndrome

DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases have been reported. The exact cause of this condition is unknown; but autosomal recessive inheritance has been suggested.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "DK Phocomelia Syndrome" for support, advocacy or research.

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

 

 

General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.