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Genetic and Rare Diseases Information Center (GARD)

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King Denborough syndrome


Other Names for this Disease

  • Anesthetic-induced malignant hyperpyrexia in children
  • King syndrome
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Overview

The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance.[1] Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core disease.[2]
Last updated: 10/17/2013

References

  1. Reed UC, Resende MB, Ferreira LG, Carvalho MS, Diament A, Scaff M, Marie SK. King-Denborough Syndrome: report of two Brazilian cases. Arq Neuropsiquiatr. 2002; http://www.ncbi.nlm.nih.gov/pubmed/12364941. Accessed 10/2/2013.
  2. D'Arcy CE, Bjorksten A, Yiu EM, Bankier A, Gillies R, McLean CA, Shield LK, Ryan MM. King-Denborough Syndrome Caused by a Novel Mutation in the Ryanodine Receptor Gene. Neurology. 2008;
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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 King Denborough syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Anesthetic-induced malignant hyperpyrexia in children
  • King 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.