SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/722385008
http://purl.bioontology.org/ontology/SNOMEDCT/722385008
Preferred Name

CEDNIK syndrome

Definitions
A neurocutaneous syndrome with characteristics of severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. It is caused by mutations in the SNAP29 gene (22q11.2) that encodes a SNARE protein involved in vesicle fusion. The disease is inherited as an autosomal recessive condition.
Synonyms
CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
Type http://www.w3.org/2002/07/owl#Class
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