CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly,<unk><unk> , facial dysmorphism, palmoplantar<unk> , and<unk> . These children usually have a normal intrauterine life and normal birth. The first symptoms to appear are abnormal eye movements, poor head and trunk control and failure to thrive. The facial dysmorphism is characteristic with elongated faces, antimongolian eye slant, slight hypertelorism and flat broad nasal root. Palmoplantar<unk>  and<unk>  appeares between 5 and 11 months of age. Soon features of psychomotor retardation as seen as a delay in major developmental milestones, becomes evident. Severe peripheral<unk>  is common in these children. Early macular degeneration is yet another clinical feature. Death is common by 5–10 years and is usually as a result of infection or aspiration pneumonia.
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
Odonto–tricho–ungual–digital–palmar syndrome
Ectrodactyly–ectodermal dysplasia–cleft syndrome
Smith Martin Dodd syndrome
Serpentine fibula-polycystic kidney syndrome
Craniosynostosis–anal anomalies–porokeratosis syndrome
Ardalan–Shoja–Kiuru syndrome
Platyspondylic lethal skeletal dysplasia, Torrance type