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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
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.
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Team Titin, Inc.'s mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders.
For a list of clinical trials in this disease area, please click here.