Cockayne syndrome

Overview

Type of disease: Rare conditions

Cockayne syndrome is the name of a group of genetic disorders that cause early (premature) aging. Symptoms of Cockayne syndrome may include height that is below average (short stature), sunlight sensitivity (photosensitivity), difficulty gaining weight (failure to thrive), small head size (microcephaly), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). Even a small amount of sunlight can cause severe sunburn in a child with Cockayne syndrome. There are 3 types of Cockayne syndrome that are defined by the age of onset and severity of symptoms. Affected children usually have a shortened life expectancy due to premature aging.

Cockayne syndrome is caused by changes (mutations) in either the ERCC6 or ERCC8 gene. These genes act as instructions for the body to make proteins that are important for DNA repair. DNA damage typically occurs from exposure to the sun, toxic chemicals, or radiation. Normally, the body is able to repair this damage before it causes health issues. However, individuals with this condition cannot repair the damage fast enough, which causes cells to die off early and leads to the premature aging seen in Cockayne syndrome. This condition is inherited in an autosomal recessive way, which means a mutation in both copies of the gene a child has is needed to cause Cockayne syndrome.

Cockayne syndrome is considered in children who have failure to thrive, short stature, abnormal brain imaging, and other features of premature aging. The diagnosis is confirmed with genetic testing. Although there is no cure for Cockayne syndrome, there are options to help decrease the symptoms, including the use of strong sunscreen and avoiding sunlight. If your child has been diagnosed with Cockayne syndrome, talk to their doctor about all treatment options. Support groups can provide more information and connect you with other affected families.

Connect. Empower. Inspire.