CEDNIK syndrome

CEDNIK syndrome

Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma syndrome. An autosomal recessive neurocutaneous syndrome (OMIM:609528) characterised by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.  

Molecular pathology
Defects of SNAP29, which encodes a protein involved in multiple membrane-trafficking steps, cause CEDNIK syndrome.