This website provides information on patients with mutations in the SKI gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SKI gene is a multisystem disorder characterized by: craniosynostosis, skeletal muscle hypotonia, intellectual disability, dolichocephaly, proptosis, hypertelorism, downslanting palpebral fissures, myopia, high arched and narrow palate, retrognathia, arachnodactyly, camptodactyly, scoliosis, cervical spine abnormality, pectus deformity, joint hypermobility, joint contractures, inguinal hernia, mitral valve prolapse and aortic dilatation. Not all individuals with a mutation in the SKI 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 SKI gene.
Dorien Schepers, Postdoctoral researcher, PhD, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium, firstname.lastname@example.org
Bart Loeys, clinical geneticist, MD, PhD, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium, email@example.com