The impact of molecular perturbation of SNAP29 functions on human development are demonstrated by CEDNIK syndrome, characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, and facial dysmorphism as well as palmoplantar keratoderma and late-onset ichthyosis (Sprecher et al., 2005; Fuchs-Telem et al., 2011). This evidence concerns the gene SNAP29 and epidermolytic palmoplantar keratoderma, 1.