King-Denborough syndrome

King-Denborough syndrome is a rare genetic disorder that affects the muscles and the development of certain body features. It is known as a genetic non-dystrophic myopathy and is characterized by a trio of features: congenital muscle weakness, distinct facial and skeletal features, and a risk for malignant hyperthermia, which is a serious reaction to some anesthetics. People with this condition may experience a range of symptoms, including delays in motor development. They often show features such as muscle weakness, fatigue, and sometimes problems with eye muscles (ptosis). In addition, skeletal abnormalities (such as short stature, scoliosis, and chest deformities) and mild facial differences (like wide-set eyes and low-set ears) are common. The condition can also include features like webbing of the neck and issues with the testes (cryptorchidism) in males.

Common symptoms include delayed motor development, muscle weakness, and tiredness. Some people may have drooping eyelids (ptosis) and a characteristic facial appearance. Other signs can include various skeletal abnormalities, such as short stature, scoliosis, and chest wall issues like pectus carinatum or excavatum. Additionally, there may be features like webbing of the neck and cryptorchidism in males.

King-Denborough syndrome is caused by changes in genes, notably the RYR1 gene, which plays a role in muscle function. The genetic change leads to issues with muscle development and can increase the risk of experiencing malignant hyperthermia, a dangerous reaction to certain anesthetic agents or situations that cause intense physical stress.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.