Cednik Syndrome

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

Epidemiology

It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families.

Clinical description

Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.

Etiology

It is caused by mutations in the SNAP29 gene (22q11.2) which encodes a SNARE protein involved in vesicle fusion.

Genetic counseling

The disease is inherited as an autosomal recessive condition.