This website provides information on patients with pathogenic variants in the MEIS2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in the MEIS2 gene is a multisystem disorder characterized by a triad of cleft palate, cardiac defects, and intellectual disability. Other features include a distinct facial phenotype, feeding problems, varying degrees of developmental delay and autism spectrum disorder.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment for patients with pathogenic variants in the MEIS2 gene.

Andrea Gangfuß, MD, Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany, andrea.gangfuss@uk-essen.de

Dorothea Schulte, PhD, Neurological Institute (Edinger Institute), University Hospital Goethe University, Frankfurt, Germany, Dorothea.schulte@kgu.de

Maria J. Guillen Sacoto, MD, GeneDx Inc., Gaithersburg, MD, USA, genematcher@genedx.com