CEDNIK syndrome

Orpha code: 66631OMIM code: 609528

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.

Disease data
Classification

Disease

Synonyms
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Zespół dysgenezja mózgu-neuropatia-rybia łuska rogowiec dłoni i stóp
ORPHA code
66631
OMIM code
609528
ICD10 code
Q82.8
ICD11 code
-

No additional description.

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