This website provides information on patients with mutations in the SMAD3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SMAD3 gene is a multisystem disorder characterized by aortic root aneurysm and dissection, aortic/arterial tortuosity, aortic/arterial aneurysm and dissection, osteoarthritis, pectus deformity, scoliosis, cervical spine instability, spondylolisthesis, joint laxity, arachnodactyly, camptodactyly, club foot, pes planus, bifid uvula, cleft palate, retrognathia, hypertelorism, soft and velvety skin, translucent skin, easy bruising, striae, dystrophic scars, exotropia, myopia, pneumothorax, hernia (inguinal, umbilical) and dural ectasia. Not all individuals with a mutation in the SMAD3 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 SMAD3 gene.

Dorien Schepers, Postdoctoral researcher, PhD, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium, dorien.schepers@uantwerpen.be

Bart Loeys, clinical geneticist, MD, PhD, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium, bart.loeys@uantwerpen.be