Cockayne syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Cockayne syndrome?
A medical geneticist (a doctor who treats inherited conditions) usually leads care for Cockayne syndrome. A pediatric neurologist (a children's brain and nerve doctor) may help too. Care is symptomatic and supportive. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Cockayne syndrome?
Cockayne syndrome is a rare genetic disorder. It is marked by short stature and an abnormally small head, called microcephaly. It also causes problems with the nervous system that can lead to intellectual disability.
The signs of this condition are usually apparent from infancy, and they worsen over time. It is estimated to occur in 2 to 3 per million newborns in the United States and Europe.
Symptoms
- A smaller than usual head, called microcephaly.
- Trouble gaining weight and growing at the expected rate.
- Very short height.
- Delayed development.
- Sensitivity to sunlight, called photosensitivity.
- Hearing loss and vision loss.
- Severe tooth decay.
- Bone abnormalities and hands and feet that are cold all the time.
- Thin, dry hair, or a lack of proper tearing in the eyes.
- An unsteady way of walking, called ataxia.
Most people with Cockayne syndrome are more sensitive to sunlight. In some cases, even a small amount of sun can cause a sunburn or blistering of the skin.
Eye problems can include cataracts, a clouding of the lens of the eye. They can also include optic atrophy, a loss of vision from wasting of the nerve fibers in the eyes.
Some people also have an enlarged liver or spleen, or high blood pressure. Some also have kidney disease or diabetes.
Doctors sometimes divide Cockayne syndrome into types I, II, and III. The types are based on how severe the symptoms are and when they start. Children with type I have growth delay and developmental delays in the first two years of life. In type I, vision, hearing, and nervous system function get worse over time. Type II is more severe, with obvious growth failure at birth. Type III starts later in childhood and is generally a milder form of the disease. Some researchers think the signs form a spectrum, not separate types.
Causes and who gets it
Cockayne syndrome is caused by changes in the ERCC6 gene or the ERCC8 gene. ERCC6 changes cause about 65% of cases. ERCC8 changes cause about 35%. These genes make proteins that help repair damaged DNA. Ultraviolet (UV) rays from the sun can damage DNA. In people with Cockayne syndrome, DNA damage is not repaired normally. Faulty DNA repair is behind the sensitivity to sunlight. It is unclear how the gene changes cause all of the features.
Cockayne syndrome is inherited in an autosomal recessive pattern. This means both copies of the gene in each cell have changes. Each parent carries one changed copy but typically shows no signs of the condition. When both parents are carriers, the chance of an affected child is 25% with each pregnancy. It affects males and females in equal numbers.
How doctors diagnose it
Cockayne syndrome is diagnosed by DNA testing for changes in the ERCC6 or ERCC8 genes. If no changes are found in these genes, a DNA repair test on skin cells can be done. Brain scans can show changes in the brain.
Treatment
Treatment of Cockayne syndrome is symptomatic and supportive. A supportive team approach can benefit children with Cockayne syndrome. It may include special education, physical therapy, and other medical, social, or vocational services.
Metronidazole is an antibiotic. People with Cockayne syndrome have a serious reaction to it. If they take it, it can cause life-threatening liver failure.
When to see a doctor
Signs such as trouble gaining weight and growing at the expected rate are usually apparent from infancy. Metronidazole, an antibiotic, can cause life-threatening liver failure in people with this condition. Call 911 or go to the emergency room if a child has trouble breathing, loses consciousness, or has bleeding that will not stop.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Care is symptomatic and supportive. Genetic counseling is recommended for family members.
Common questions
Is Cockayne syndrome inherited?
Yes, Cockayne syndrome is inherited in an autosomal recessive pattern. This means both copies of the gene in each cell have changes. The parents each carry one changed copy, but they typically do not show signs of the condition.
Does Cockayne syndrome make a person sensitive to the sun?
Yes, most people with Cockayne syndrome have an increased sensitivity to sunlight. In some cases, even a small amount of sun exposure can cause a sunburn or blistering of the skin.
Can the antibiotic metronidazole cause problems in Cockayne syndrome?
Yes, people with Cockayne syndrome have a serious reaction to this antibiotic. If they take it, it can cause life-threatening liver failure.
How common is Cockayne syndrome?
Cockayne syndrome is rare. It is estimated to occur in 2 to 3 per million newborns in the United States and Europe. It is probably underdiagnosed.
Sources
- MedlinePlus Genetics - Cockayne syndrome
- National Organization for Rare Disorders (NORD) - Cockayne Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
