King-Denborough syndrome

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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 July 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Team Titin

Team Titin, Inc.'s mission is 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

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