Living with Cockayne syndrome
A rare condition with a small head, slow growth, delayed development, and sensitivity to sunlight, usually clear from infancy.
Understanding Cockayne syndrome
Signs are usually clear from infancy and worsen over time. Most people are very sensitive to sunlight and can burn or blister quickly. Other signs include hearing loss, vision loss, severe tooth decay, bone differences, cold hands and feet, and brain changes seen on scans. GARD says people with Cockayne syndrome can have a serious reaction, including liver failure, to an antibiotic called metronidazole. It is sometimes divided into types I, II, and III.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Slow growth and short stature
- Delayed development
- Sensitivity to sunlight
- Hearing and vision loss
- Severe tooth decay
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, ear, nose, and throat specialists and eye disease specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cockayne Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene on this page.
Also known as: neill-dingwall syndrome
Patient organizations
- Cockayne Syndrome FoundationCockayne syndrome · United States
- Share & Care Cockayne Syndrome Network Inc.Cockayne syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cockayne syndrome.
Explore research for Cockayne syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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