Chang–Davidson–Carlson syndrome

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

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

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

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

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

• Genetic disorder
• Autosomal recessive inheritance
• Genetic testing

NIH genetic and rare disease info

• NIH info on Chang–Davidson–Carlson syndrome

Chang–Davidson–Carlson syndrome is a rare disease.

Chang–Davidson–Carlson syndrome Resources
Latest articles Most recent articles Ongoing trials	Wikipedia