Beyond the Surface Clinical and genetic insights in CEDNIK Syndrome

Neurocutaneous syndromes are a group of disorders with shared embryonic origins involving neural and epidermal tissues. CEDNIK Syndrome (CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) is a rare genetic condition with an estimated global incidence of 0.043%. It results from mutations in the SNAP29 gene, which is vital for cellular trafficking and other essential processes. These mutations lead to developmental and clinical manifestations, underscoring the importance of early diagnosis and intervention