disease shares features of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Noonan syndrome King-Denborough syndrome https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome Kousseff Nichols syndrome Koussef-Nichols syndrome MEDGEN:327082 Orphanet:99741 MONDO:0020485 MESH:C537504 King Denborough syndrome GARD:0008433 Noonan like contracture myopathy hyperpyrexia MESH:C536883 OMIM:619542 anesthetic-induced malignant hyperpyrexia in children UMLS:C1840365 SCTID:764957003 A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. RYR1-related myopathy