King Denborough syndrome
Type of disease: Rare conditions
The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance. 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.
Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.