This website provides information on patients with mutations in the KIAA1217 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the KIAA1217 gene is a multisystem disorder characterized by vertebral malformations.

Not all individuals with a mutation in the KIAA1217 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 KIAA1217 gene.

Phillip F. Giampietro, MD, PhD, University of Illinois, Chicago, Illinois, USA, philipg@uic.edu

Nara Sobreira, MD, PhD, Johns Hopkins University, Baltimore, Maryland, USA, nsobrei2@jhmi.edu