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

The syndrome caused by mutations in the SHH gene is a multisystem disorder characterized by holoprosencephaly, craniofacial defects including cleft lip/palate and single median incisor, coloboma and microphtalmia. Not all individuals with a mutation in the SHH 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 SHH gene.

Christèle Dubourg, PharmD, PhD, Molecular Genetics and Genomics, Centre Hospitalier Universitaire Rennes, Rennes, France, christele.dubourg@chu-rennes.fr

Sylvie Odent, MD, PhD, Service de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Centre Hospitalier Universitaire Rennes, Rennes, France, sylvie.odent@chu-rennes.fr

Alinoë Lavillaureix, MD, Service de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Centre Hospitalier Universitaire Rennes, Rennes, France, alinoe.lavillaureix@chu-rennes.fr