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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: Disorder
  • Synonym(s):
    • Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 609528
  • UMLS: C1836033
  • MeSH: -
  • GARD: 9940
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.