Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder characterized by physical and intellectual disabilities. It is caused by mutations or deletions in the CREBBP or EP300 genes, which play a crucial role in normal development. RTS affects approximately 1 in 125,000 to 720,000 individuals worldwide.
Physical features: Individuals with RTS often exhibit distinctive facial characteristics such as downward slanting eyes, broad thumbs, and a beaked nose. They may also have growth delays, skeletal abnormalities, and heart defects.
Intellectual abilities: People with RTS typically have varying degrees of intellectual disability, ranging from mild to severe. They may experience delays in speech and language development, as well as learning difficulties.
Other symptoms: RTS can also present with additional health issues, including feeding difficulties, hearing loss, vision problems, and an increased risk of infections. Behavioral challenges, such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), may also be observed.
While there is no cure for RTS, treatment focuses on managing the symptoms and providing support to individuals and their families. Early intervention programs, educational support, and therapies tailored to the specific needs of each person can greatly improve their quality of life.