Synonyms: Koussef-Nichols syndrome
King-Denborough syndrome is 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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King-Denborough syndrome?
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Advocacy Organizations
Association Aux Pas du Coeur – Côte d’ivoire
Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.
Fundacion Powerchair Football Argentina
To develop Powerchair Football in Argentina in order to integrate people with motor disabilities (SMA, Duchenne muscular dystrophy, Achondroplasia, Rare Diseases) into sports practice and to promote their social inclusion, based on empowerment, independence, and the creation of new bonds and friendships.
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Team Titin
Team Titin, Inc. is a 501(c)(3) nonprofit with the mission to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders. To achieve this mission, we focus on four key pillars: Connection, Advocacy, Care, and Research.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.