What is rubinstein-taybi sendromu?

Rubinstein-Taybi syndrome is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the CREBBP or EP300 genes which affects the production of proteins that regulate gene expression during development.

The symptoms of Rubinstein-Taybi syndrome can vary greatly among affected individuals, but may include intellectual disability, distinctive facial features, short stature, and skeletal abnormalities. Individuals may also have an increased risk of developing certain cancers, cardiovascular anomalies, and recurrent infections.

Diagnosis of Rubinstein-Taybi syndrome is typically based on clinical features and genetic testing. There is no cure for the condition, but treatment may involve managing symptoms and providing supportive care. Early intervention therapies such as physical therapy, occupational therapy, and speech therapy may also be helpful in improving developmental outcomes in affected individuals.

Overall, Rubinstein-Taybi syndrome is a complex and rare genetic disorder that requires a multidisciplinary team approach to manage effectively.