This website provides information on patients with mutations in the SOX4 gene, including clinical data, molecular data, management and research options. The syndrome caused by mutations in the SOX4 gene is a multisystem disorder characterized by developmental delay, intellectual disability, mild but distinctive facial features and clinodactyly of the 5th finger. Not all individuals with a mutation in the SOX4 gene have these 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 SOX4 gene.

Claudio Graziano, MD, Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy, claudio.graziano@unibo.it

Veronique Lefebvre, PhD, Division of Orthopaedic Surgery, Children’s Hospital of Philadelphia, Philadelphia, USA, lefebvrev1@email.chop.edu