CEDNIK Syndrome

CEDNIK syndrome is a neurocutaneous syndrome characterized by severe nervous system developmental disorders, keratoderma and hyperkeratosis of the epidermis. The acronym consists of cerebral dysgenesis, neuropathy, ichthyosis, and palmo-plantar keratoderm.

The syndrome manifests already in the newborn or in toddler age. Typical symptoms include wandering eye movements, lack of control of the trunk and head, and typical facial dysmorphisms with hypertelorism, a broad nasal root, and an antimongoloid eyelid. 

Inheritance is autosomal recessive. The cause of the disease is due to a mutation in the SNAP29 gene in the chromosomal region 22q11.2, which encodes a SNARE protein involved in the fusion of vesicles.