[2] CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure of the nervous system and the epidermis.
Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis.
[3] This condition is associated with a loss-of-function mutation in SNAP29 gene, encoding a member of the SNARE family of proteins which is involved in intracellular vesicle fusion.
Decrease in SNAP29 expression was found to result in abnormal lamellar granule maturation and secretion.
[5] The abnormal gene of CEDNIK disease was mapped on chromosome 22 by Sprecher E et al.[5]