DK phocomelia syndrome
Other Names for this Disease
- Phocomelia - thrombocytopenia - encephalocele - urogenital malformations
- Phocomelia thrombocytopenia encephalocele and urogenital malformations
- Von Voss Cherstvoy syndrome
- Von Voss-Cherstvoy syndrome
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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.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 (
Last updated: 1/26/2012
- 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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- 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.
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