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Diseases

Genetic and Rare Diseases Information Center (GARD)

Vici syndrome


Other Names for this Disease
  • Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
  • Absent corpus callosum cataract immunodeficiency
  • Dionisi Vici Sabetta Gambarara syndrome
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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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
  • Absent corpus callosum cataract immunodeficiency
  • Dionisi Vici Sabetta Gambarara 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.