Living with Cockayne syndrome type 1
A rare genetic condition affecting growth and development, with a small head, short height, delayed milestones, and sun sensitivity.
Understanding Cockayne syndrome type 1
A smaller head size, short height, and delayed milestones define it. Symptoms can begin in infancy and worsen over time. Most people are extremely sensitive to sunlight. Brain scans can show parts of the brain shrinking over time. In classic type I, children grow normally before birth but show growth and developmental delays within the first two years, then develop vision and hearing loss and other severe disabilities. GARD lists onset during pregnancy, at birth, and in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size
- Slow growth and short height
- Delayed milestones
- Sensitivity to sunlight
- Vision and hearing loss
- Poor balance and coordination (ataxia)
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.
- 3Consider genetic testing
Changes in ERCC8 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 changes in the ERCC8 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: classical cockayne syndrome; cockayne syndrome type i; cockayne syndrome a; cockayne syndrome caused by mutation in ercc8; cockayne syndrome classic form; cockayne syndrome classical
Patient organizations
- Cockayne Syndrome FoundationCockayne syndrome type 1 · United States
- Share & Care Cockayne Syndrome Network Inc.Cockayne syndrome type 1 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cockayne syndrome type 1.
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