Marbach-Schaaf Neurodevelopmental Syndrome Foundation, Inc.

We are dedicated to educating the public about the rare genetic disorder Marbach-Schaaf Neurodevelopmental Syndrome (MASNS), facilitating study of affected individuals, and supporting research efforts to investigate treatments. The disease was first described in 2021 and is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). Affected individuals also show difficulties in coordination and motor planning, high pain tolerance, overeating, and sleep disturbances. Our mission is to 1) increase awareness, education, and advocacy for MASNS; 2) foster a sense of community and provide assistance to patients and their families; and 3) support and engage in research to accelerate the path to better diagnosis and treatment. Additional contact email: c[email protected]