Cockayne syndrome is a rare genetic disorder that occurs when there are mutations in the ERCC6 or ERCC8 genes. It causes premature aging, sensitivity to light and dwarfism. The condition can affect vision, development, skin and more. There are three types. Severity of symptoms and life expectancy vary for each.
Cockayne syndrome is a rare inherited disorder that causes:
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There are three types:
Cockayne syndrome occurs in approximately 2 to 3 per million newborns in the United States and Europe.
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Cockayne syndrome is a DNA repair disorder. The condition occurs due to mutations in the ERCC6 or ERCC8 gene. These defects impact the body’s ability to repair damaged DNA. Instead, it accumulates in cells, affecting their ability to function.
DNA damage may be due to:
Cockayne syndrome causes a broad range of symptoms affecting:
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Your healthcare provider will diagnose your condition based on a combination of clinical features and test results. Tests that help healthcare providers diagnose Cockayne syndrome include:
To receive an accurate diagnosis, it’s essential to see a healthcare provider familiar with this condition. They have the experience to rule out issues with similar symptoms, which include:
There is no cure for Cockayne syndrome. Treatment involves a team of specialists to prevent and treat complications. Treatment may include:
Regular dental checkups are necessary to prevent and treat tooth decay.
A nasogastric tube or percutaneous endoscopic gastrostomy to deliver nutrition to the stomach.
As a genetic disorder, there isn’t anything you can do to prevent Cockayne syndrome. Once a child is born with it, they have it for life.
If you are thinking of starting or expanding your family and there is a family history of Cockayne syndrome, genetic testing can help. Testing lets you and your partner know whether you carry the ERCC6 or ERCC8 gene mutation. If you do, a genetic counselor can explain the likelihood of having a child with Cockayne syndrome.
Cockayne syndrome affects life expectancy. Your child’s prognosis depends on the type:
Your child’s daily life depends on the type of Cockayne syndrome they have. Support services for children with intellectual and developmental disabilities can make their lives a little easier. This may include home- and community-based services to support daily activities. Specialized social activities may be available as well.
Some children go to school until their intellectual abilities decline. Individual education plans and teacher aides make it easier for your child to learn alongside other children. Children with severe forms of the disease might not benefit from being at school. Instead, daily activities may focus on medical care and therapies to help them stay comfortable.
Living with Cockayne syndrome can cause unusual reactions to certain medications. For infections, it’s essential to avoid metronidazole, an antibiotic. This drug can cause life-threatening liver failure in people with Cockayne syndrome.
A note from Cleveland Clinic
Cockayne syndrome is a rare inherited disorder that occurs when there are mutations in the ERCC6 or ERCC8 genes. It can affect the eyes, cognitive abilities, skin, appearance and more. Children with this condition have a shorter life expectancy. But therapies and support services can maximize their comfort and quality of life.
Last reviewed on 07/23/2022.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy