Living with CEDNIK syndrome
A rare genetic condition that affects how the brain and skin develop, with nerve and skin problems.
Understanding CEDNIK syndrome
The name stands for CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. That means the brain develops abnormally, nerves are affected, and the skin is dry and scaly with thickened skin on the palms and soles. It starts in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Thick skin on palms and soles
- Poor balance and coordination (ataxia)
- Absent tendon reflexes
- Eye movement problems
- Brain with fewer, broader folds (pachygyria)
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SNAP29 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- 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 Foundation for Ichthyosis and Related Skin Types 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
Changes in the SNAP29 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: cednik (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome; cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome; cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome; cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma; cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with CEDNIK syndrome.
Explore research for CEDNIK 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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