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.
CEDNIK syndromeQ82.8
DefinitionThis section has been translated automatically.
Occurrence/EpidemiologyThis section has been translated automatically.
Known are <20 patients
EtiopathogenesisThis section has been translated automatically.
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).
LiteratureThis section has been translated automatically.
- Bansal V et al (2021) CEDNIK syndrome: report of an ultra-rare case from India. Neurol India 69:1861-1862.
- Fuchs-Telem D et al (2011) CEDNIK syndrome results from loss-of-function mutations in SNAP29. Br J Dermatol 164:610-616.
- Poojary S et al (2019) CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. Pediatr Dermatol 36:372-376.