Treatment Options For Cockayne Syndrome

Cockayne syndrome is an uncommon disorder that causes delayed development, an irregularly small head size, failure to gain weight, and short stature. Typically, the first symptoms of Cockayne syndrome manifest in a patient's infancy, and progressively get worse as they move into childhood. Cockayne syndrome is caused by mutations in DNA, including the ERCC6 gene or the ERCC8 gene. These genes are responsible for providing instructions on how to repair damage to cellular DNA before they have the chance to result in problems. Symptoms commonly seen in Cockayne syndrome are photosensitivity, loss of vision, hearing loss, bone abnormalities, cold extremities, severe decay of teeth, and abnormalities of the brain tissue that can be observed on diagnostic imaging tests. Diagnosis is made with the use of physical examination, diagnostic imaging, and molecular genetic blood testing.