Overview
CEDNIK syndrome is a very rare inherited condition that affects the skin, brain, and nervous system. The name stands for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma — which describes the main features of the disease. It is also sometimes called SNAP29 deficiency, after the gene that is changed in people with this condition. The disease causes the skin to become thick, scaly, and rough — a condition called ichthyosis — especially on the palms and soles. At the same time, the brain does not develop normally, which leads to intellectual disability, delayed development, and problems with movement and coordination. Many children with CEDNIK syndrome also have difficulty swallowing, poor muscle tone, and seizures. The face may have distinctive features, and some children have eye problems. There is currently no cure for CEDNIK syndrome. Treatment focuses on managing symptoms — for example, using moisturizers and skin creams to help with the skin problems, physical and occupational therapy to support development, and medications to control seizures. Because the condition affects multiple body systems, a team of different specialists is usually needed to provide the best care.
Key symptoms:
Thick, scaly skin (ichthyosis) covering large areas of the bodyVery thick, rough skin on the palms of the hands and soles of the feet (keratoderma)Intellectual disability and learning difficultiesDelayed development — late to sit, stand, or walkPoor muscle tone (floppy muscles) in infancySeizures or epilepsyDifficulty swallowing (dysphagia)Abnormal brain structure visible on MRI scansProblems with coordination and balanceDistinctive facial featuresEye abnormalitiesSlow or absent speech development
Clinical phenotype terms (33)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for CEDNIK syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for CEDNIK syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to CEDNIK syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,What is the best skin care routine for my child, and are there specific products you recommend?,What anti-epileptic medications are most appropriate for my child's type of seizures?,What therapies — physical, occupational, or speech — should my child start, and how often?,Are there any clinical trials or research studies that my child might be eligible for?,What signs should prompt me to seek emergency care?,Are there patient registries or specialist centers with experience in CEDNIK syndrome that we should connect with?
Common questions about CEDNIK syndrome
What is CEDNIK syndrome?
CEDNIK syndrome is a very rare inherited condition that affects the skin, brain, and nervous system. The name stands for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma — which describes the main features of the disease. It is also sometimes called SNAP29 deficiency, after the gene that is changed in people with this condition. The disease causes the skin to become thick, scaly, and rough — a condition called ichthyosis — especially on the palms and soles. At the same time, the brain does not develop normally, which leads to intellectual disability, delayed development, and probl
How is CEDNIK syndrome inherited?
CEDNIK syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CEDNIK syndrome typically begin?
Typical onset of CEDNIK syndrome is neonatal. Age of onset can vary across affected individuals.