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Genetic and Rare Diseases Information Center (GARD)

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DK phocomelia syndrome


Other Names for this Disease

  • Phocomelia thrombocytopenia encephalocele and urogenital malformations
  • Von Voss Cherstvoy syndrome
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Overview

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.[1]
Last updated: 1/26/2012

References

  1. Von Voss-Cherstvoy syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3439. Accessed 1/26/2012.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss DK phocomelia syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Phocomelia thrombocytopenia encephalocele and urogenital malformations
  • Von Voss Cherstvoy syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.