Radio-Tartaglia syndrome

Radio-Tartaglia syndrome is a condition caused by a variation in the SPEN gene. It is known to affect brain development and can lead to developmental delays and challenges with intellectual functioning. The condition is also associated with features of autism spectrum disorder, anxiety, and attention deficit, among other neurological symptoms. People with this condition may experience hypotonia (low muscle tone), brain and spine anomalies, and specific physical features such as a high or narrow palate and facial dysmorphisms. Additional characteristics include congenital heart defects and a tendency towards obesity or increased body mass index, particularly observed in females.

Common signs in people with Radio-Tartaglia syndrome include developmental delay or intellectual disability, autism spectrum disorder, and behavioral challenges such as anxiety, aggressive behavior, and attention deficit disorder. Other symptoms may include low muscle tone, anomalies in the brain and spine, congenital heart defects, a high or narrow palate, and distinctive facial features. Increased body weight or BMI is also reported, especially among females.

Radio-Tartaglia syndrome is caused by a variation in the SPEN gene. This genetic change impacts the development of the nervous system and other body systems, leading to the range of symptoms observed in people with this condition.

Information about treatment options 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.