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CEDNIK syndrome
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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
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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Clinical genetics review
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Further information on this disease
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Newborn screening
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