Mednik syndrome

MEDNIK is the acronym for mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.

The disease is a form of erythrokeratodermia variabilis. The syndrome is inherited as an autosomal recessive trait, but has so far been described only in very few cases.

The disease is based on a gene mutation-related metabolic disorder in the copper cycle.