CEDNIK Syndrome

CEDNIK syndrome is a rare genetic disorder with gross developmental delay, abnormal nervous system development, and epidermis in the newborn. The clinical symptoms of the affected babies manifest and worsen with age. During the initial 4 months, patients display physical signs such as rapid eye movements, poor head and trunk control, and microcephaly followed by the failure to thrive. Patients with CEDNIK syndrome present with small anterior fontanel, intellectual disability, sensorineural deafness, feeding difficulties, and cachexia. Deformed facial cues are apparent such as elongated faces, pointed prominent nasal tip, antimongoloid eye slant, small flat chin, low-set ears, mild hypertelorism, and a flat, broad nasal root. Ichthyosis and palmoplantar keratoderma will also appear before the end of the first year of life. Skeletal abnormalities are also present like scoliosis, syndactyly, and clinodactyly. Most patients suffer from persistent episodes of pneumonia. Within 8–15 months of life, psychomotor retardation becomes apparent. Low amplitude responses on peripheral nerve conduction led to the loss of deep tendon reflexes. Many patients do not survive beyond childhood (Swash and Schwartz 1997).