Synonyms: Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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