CEDNIK Syndrome is a neurocutaneous syndrome that affects multiple organ systems.
Chromosome: 22q11.21
Gene affected: SNAP29 (synaptosome associated protein 29)
CEDNIK is an acronym for the key features:
(1) cerebral dysgenesis (CED)
(2) neuropathy (N)
(3) ichthyosis (I)
(4) keratoderma (K)
Additional findings:
(1) severe developmental delay
(2) microcephaly
(3) facial dysmorphism (epicanthus, downslanted palpebral fissures, broad nasal tip, ling philtrum, thin upper lip, retrognathia, short neck, etc)
(4) hypotonia
(5) feeding difficulty
(6) nystagmus and/or strabismus
(7) seizures
(8) posterior rotation of ears with variable sensorineural deafness
