This website provides information on patients with variants in the SEC24D gene, including clinical data, molecular data, management and research options.

Cole-Carpenter syndrome type 2, caused by variants in the SEC24D gene, is a multisystem disorder characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. SEC24D is also responsible for osteogenesis imperfecta when syndromic or dysmorphic features are not observed.

Not all individuals with a variant in the SEC24D 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 variants in the SEC24D gene.

Keiichi Ozono, MD, PhD, Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan, keioz@ped.med.osaka-u.ac.jp

Shinji Takeyari, MD, PhD, Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan, s.takeyari@ped.med.osaka-u.ac.jp