King Denborough syndrome

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Disease 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.[654] 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.[655]


Synonyms

  • Anesthetic-induced malignant hyperpyrexia in children
  • King syndrome

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National Organization for Rare Disorders