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Genetic and Rare Diseases Information Center (GARD)

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Vici syndrome


Other Names for this Disease
  • Absent corpus callosum cataract immunodeficiency
  • Dionisi Vici Sabetta Gambarara syndrome
  • Dionisi-Vici-Sabetta-Gambarara syndrome
  • Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Treatment is mainly supportive.[1]
Last updated: 5/18/2015

References

  1. Heinz Jungbluth. Vici Syndrome. Orphanet. May, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1493. Accessed 5/18/2015.
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In Depth Information

  • 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 Vici syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Absent corpus callosum cataract immunodeficiency
  • Dionisi Vici Sabetta Gambarara syndrome
  • Dionisi-Vici-Sabetta-Gambarara syndrome
  • Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.