King Denborough syndrome
Alternate names
Anesthetic-induced malignant hyperpyrexia in children; King syndrome
Definition
The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance.
Cause
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.
Inheritance
The presence of a myopathy associated with a prediposition to malignant hyperthermia suggests an autosomal dominant pattern of inheritance with variable expression (the altered gene is expressed in different ways in different people).
NIH genetic and rare disease info
King Denborough syndrome is a rare disease.
Resources
Frequently asked questions
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju