King-Denborough syndrome

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King-Denborough syndrome

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 Data version December 2023

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King-Denborough syndrome?

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Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning 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 so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

For a list of clinical trials in this disease area, please click here.