This website provides information on patients with mutations in the SOX5 gene, including clinical data, molecular data, management and research options.

Lamb-Shaffer syndrome (OMIM #616803) is caused by heterozygous pathogenic variants or deletions in SOX5 (OMIM *604975). It is a multisystem disorder characterized by developmental delay, intellectual disability, behavioural disturbances (autism, stereotypies, hyperactivity) and specific facial characteristics. Other clinical features seen in Lamb-Shaffer syndrome include growth retardation, small head , neurological features, hypotonia, eye/vision anomalies, scoliosis or other mild skeletal malformations, and epilepsy.

Not all individuals with a pathogenic variant in SOX5 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 SOX5 gene.

Christel Depienne, PhD, Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany, christel.depienne@uk-essen.de

Alma Kuechler, MD, Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany, alma.kuechler@uk-essen.de

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