This website provides information on patients with mutations in the CWC27 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CWC27 gene is a multisystem disorder characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects.

Not all individuals with a mutation in the CWC27 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 CWC27 gene.

Rui Chen, PhD, Baylor College of Medicine, Houston, USA, ruichen@bcm.edu

Ruifang Sui, MD, PhD, Peking Union Medical College Hospital, China, hrfsui@163.com