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CEDNIK syndrome
Disease definition
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.
ORPHA:66631
Classification level: DisorderDetailed information
Professionals
- Emergency guidelines
- Français (2018, pdf)
- Clinical practice guidelines
- Français (2021)
- Practical genetics
- English (2013, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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