Living with Xeroderma pigmentosum-Cockayne syndrome complex
A rare inherited condition that combines sun-sensitive skin changes with nervous system and growth problems.
Understanding Xeroderma pigmentosum-Cockayne syndrome complex
People have the skin signs of xeroderma pigmentosum (XP), which involves sun sensitivity. They also have the body-wide and brain and nerve features of Cockayne syndrome. GARD lists onset in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Small head size (microcephaly)
- Poor coordination (ataxia)
- Hearing loss
- Dry skin and many freckles
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.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
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
- Expert lists: National Ataxia Foundation
- 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 this condition is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't list a specific gene here.
Also known as: xeroderma pigmentosum and cockayne syndrome complex; xp/cs complex
Patient organizations
- Cockayne Syndrome FoundationXeroderma pigmentosum-Cockayne syndrome complex · United States
- Xeroderma Pigmentosum SocietyXeroderma pigmentosum-Cockayne syndrome complex · United States
- XP Family Support GroupXeroderma pigmentosum-Cockayne syndrome complex · United States
- National Ataxia FoundationAtaxia · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Xeroderma pigmentosum-Cockayne syndrome complex.
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