This website provides information on patients with mutations in the IPO8 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the IPO8 gene is a multisystem disorder characterized by:
•    Thoracic aortic aneurysm at the level of the aortic root and/or ascending aorta
•    Arterial tortuosity
•    Atrial/ventricular septal defect
•    Joint hypermobility
•    Skin hyperlaxity
•    Umbilical hernia
•    Hypotonia
•    Developmental motor delay
•    Hypertelorism
•    Ptosis
•    Bifid uvula or cleft palate
•    Pectus excavatum/carinatum
•    Arachnodactyly/camptodactyly
•    Scoliosis
•    Club foot
•    Immunological abnormalities

Not all individuals with a mutation in the IPO8 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 IPO8 gene.

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

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