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Genetic and Rare Diseases Information Center (GARD)

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Toriello Carey syndrome


Other Names for this Disease

  • Corpus callosum agenesis facial anomalies Robin sequence
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Overview

Toriello-Carey syndrome is rare genetic condition which was first described in 1988 by Helga V. Toriello and John C. Carey. Although the signs and symptoms of the syndrome may vary from person to person, the condition is generally characterized by corpus callosum agenesis, unusual facial appearance, Pierre Robin sequence, and other anomalies.  Treatment is symptomatic.[1]
Last updated: 8/1/2013

References

  1. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, et al. Am J Med Genet A. 2003 Nov 15; http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=14556252%5Buid%5D. Accessed 4/17/2008.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Toriello Carey syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Corpus callosum agenesis facial anomalies Robin sequence
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.