Chang–Davidson–Carlson syndrome

From WikiMD's Food, Medicine & Wellness Encyclopedia

Chang–Davidson–Carlson syndrome is a rare genetic disorder characterized by a variety of physical and neurological symptoms. The syndrome is named after the three scientists, Dr. Chang, Dr. Davidson, and Dr. Carlson, who first identified and described the condition in the late 20th century.

Symptoms and Diagnosis[edit | edit source]

The symptoms of Chang–Davidson–Carlson syndrome can vary widely among individuals, but they often include developmental delay, intellectual disability, and distinctive facial features. Other common symptoms include seizures, muscle weakness, and abnormalities in the structure of the heart.

Diagnosis of Chang–Davidson–Carlson syndrome is typically based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the specific gene associated with the syndrome.

Genetics[edit | edit source]

Chang–Davidson–Carlson syndrome is caused by mutations in a specific gene. The syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome.

Treatment and Management[edit | edit source]

There is currently no cure for Chang–Davidson–Carlson syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy to help manage developmental delays and improve quality of life. Medications may be used to manage seizures and other symptoms.

Research Directions[edit | edit source]

Research into Chang–Davidson–Carlson syndrome is ongoing, with scientists working to better understand the genetic basis of the syndrome and to develop new treatments.

See Also[edit | edit source]

Template:Genetic disorder

NIH genetic and rare disease info[edit source]

Chang–Davidson–Carlson syndrome is a rare disease.

Chang–Davidson–Carlson syndrome Resources
Doctor showing form.jpg
Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Contributors: Admin, Prab R. Tumpati, MD