This website provides information on patients with mutations in the POLR3GL gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the POLR3GL gene is a multisystem disorder characterized by oligodontia, short stature and facial dysmorphisms. Some individuals have endosteal hyperostosis or developmental delay.

Not all individuals with a mutation in the POLR3GL gene have these features.

This website was created to share and collect information about clinical features, management and research projects to gather more knowledge and provide better treatment for patients with mutations in the POLR3GL gene.

Éliane Beauregard-Lacroix, MD, Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, Canada, eliane.beauregard-lacroix@umontreal.ca

Philippe Campeau, MD, Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, Canada, p.campeau@umontreal.ca