This website provides information on patients with mutations in the SOX6 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SOX6 gene is a multisystem disorder characterized by developmental delay and/or intellectual disability. Additional, inconstant features include attention-deficit/hyperactivity disorder (ADHD), autism, mild facial dysmorphism, craniosynostosis, and multiple osteochondromas.

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 SOX6 gene.

Cedric le Caignec, MD, PhD, Medical genetics department, University Hospital Toulouse, Toulouse, France, lecaignec.c@chu-toulouse.fr

Véronique Lefebvre, PhD, Department of Surgery, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA, lefebvrev1@email.chop.edu