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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-08-2015
Location 22q11.2
Name CEDNIK syndrome
Corresponding gene SNAP29
Main clinical features
  • cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma, progressive microcephaly and facial dysmorphism, palmoplantar keratoderma and ichthyosis
  • progressive worsening during the 2nd year of life, psychomotor retardation with peripheral nerve conduction demonstrating low-amplitude responses, at muscle biopsies neurogenic atrophy and normal activity of the mitochondrial respiratory chain complexes, hypoplastic optic disk, and mild sensorineural deafness
  • MR image demonstrating cortical dysplasia and pachygyria with polymicrogyria
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name synaptosomal-associated protein, 29kDa
  • role of SNAP29 at key steps of membrane trafficking, predicting that signaling defects may contribute to the pathogenesis of cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) (PMID: 25551675))