Overview

King Denborough syndrome is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance.

Presentation

Characterized by hypotonia at birth, mild proximal muscle weakness, delay in motor development, joint hyperextensibility and dysmorphic facial features including ptosis, low-set ears and high arched palate, micrognathia, malar hypoplasia, hypertelorism, along with palmar simian line, pectus excavatum, winging of scapulae, lumbar lordosis and thoracic scoliosis.

Impacts on anaesthesia

There is variability in the RYR1 mutations seen in patients with KDS

These patients should be considered malignant hyperthermia susceptible

Strong recommendation for a trigger free anaesthetic