Catalog

King Denborough syndrome

No MMS code

Link to WHO Definition

King Denborough syndrome – http://id.who.int/icd/entity/1140335303

Rare condition characterised by a susceptibility to malignant hyperthermia, delayed motor development, short stature, cryptorchidism, skeletal abnormalities, and variable dysmorphic features. Autosomal dominant inheritance with variable expressivity has been reported in several cases, although either recessive inheritance, mosaicism or highly variable penetrance have been described.