This website provides information on patients with mutations in the TGFB3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TGFB3 gene is a multisystem disorder characterized by thoracic and abdominal aortic aneurysm and dissection, mitral valve prolapse or regurgitation, hypertelorism, exotropia, rethrognatia, bifid uvula or cleft palate, cervical spine instability, pectus excavatum/carinatum, scoliosis and club foot. Not all individuals with a mutation in the TGFB3 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 TGFB3 gene.

Aline Verstraeten, Postdoctoral researcher; PhD, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium, aline.verstraeten@uantwerpen.be