This website provides information on patients with mutations in the UFSP2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the UFSP2 gene is a multisystem disorder characterized by

Pathogenic heterozygous variants in C-terminal domain of the UFSP2 protein that cause skeletal dysplasia while recessive pathogenic variants in the N-terminal domain have been associated with epileptic encephalopathy and severe developmental delay.

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 UFSP2 gene.

Monika Weisz-Hubshman, MD, PhD, Baylor College of Medicine, Houston, Texas, USA, hubshman@bcm.edu