CSF1R BANDDOS

This website provides information on patients with mutations in the CSF1Rgene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CSF1Rgene is a multisystem disorder characterized by brain malformations, progressive neurodegenerative disorders, and dysosteosclerosis, with onset typically occurring before puberty. Clinical manifestations include cognitive dysfunction, loss of motor function, spasticity, and focal seizures. Neuroimaging reveals white matter lesions, periventricular calcification, and corpus callosum hypoplasia, accompanied by diffuse osteosclerosis and widened metaphyses of tubular bones as skeletal abnormalities.

Not all individuals with a mutation in the CSF1Rgene 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 CSF1Rgene.

Long Guo, MD, PhD, Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China, longguo601@gmail.com
Jinhui Zhu, Xi’an Jiaotong University, Xi'an, Shaanxi, China, aydzjh@163.com