This website provides information on patients with mutations in the PRKAR1B gene, including clinical data, molecular data, management and research options.

Marbach-Schaaf neurodevelopmental syndrome (MASNS) is a very rare congenital neurodevelopmental disorder caused by mutations in the PRKAR1B gene. This multisystem disorder 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 movement disorders, such as dyspraxia and apraxia. Other characteristics are high pain tolerance, sleep disturbances, and variable nonspecific dysmorphic features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PRKAR1B gene.

Christian Schaaf, MD, PhD, Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany, christian.schaaf@med.uni-heidelberg.de

Pilar Caro, PhD, Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany, MariadelPilar.CaroMartin@med.uni-heidelberg.de