CEDNIK syndrome Q82.8

CEDNIK syndrome (CEDNIK is the acronym for: cerebral dysgenesis, neuropathy, ichthyosis and palmo-plantar keratoderm). The syndrome belongs to the very rare congenital neuro-cutaneous disorders counted with ichthyosis, palmoplantar keratosis and additional developmental disorders of the nervous system.The disease is inherited in an autosomal recessive manner (Bansal V et al. 2021) and is associated with a loss-of-function mutation in SNAP29. SVAP29 encodes a member of the SNARE protein family. Decreased expression of SNAP29 has been found to lead to abnormal maturation of lamellar granules, resulting in abnormal epidermal differentiation and ichthyosis.

Known are <20 patients

Caused by mutations in the SNAP29 gene in chromosomal region 22q11.2, which encodes a SNARE protein involved in vesicle fusion (Fuchs-Telem D et al. 2011).

1. Bansal V et al (2021) CEDNIK syndrome: report of an ultra-rare case from India. Neurol India 69:1861-1862.
2. Fuchs-Telem D et al (2011) CEDNIK syndrome results from loss-of-function mutations in SNAP29. Br J Dermatol 164:610-616.
3. Poojary S et al (2019) CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. Pediatr Dermatol 36:372-376.