Living with Cockayne syndrome type 2
A rare genetic condition, starting between birth and age 2, with a small head, slow growth, and sun sensitivity.
Understanding Cockayne syndrome type 2
It causes a smaller head size and slower weight gain and growth. Skin can be extra sensitive to sunlight. People may lose hearing or sight, have severe tooth decay, bone issues, hands and feet that feel cold all the time, and brain changes on scans. Type II is sometimes called COFS syndrome, and researchers think it may be part of the same range or a separate, similar condition. 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 (microcephaly)
- Slow growth
- Intellectual disability and delayed development
- Poor balance and coordination (ataxia)
- Long face and large lower jaw
- Walking difficulty
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 ERCC6 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 ERCC6 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cockayne syndrome b; cockayne syndrome type b; cockayne syndrome type ii; cockayne syndrome, type b; cockayne syndrome, type ii; csb
Patient organizations
- Cockayne Syndrome FoundationCockayne syndrome type 2 · United States
- Share & Care Cockayne Syndrome Network Inc.Cockayne syndrome type 2 · 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 2.
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