Mednik Syndrome

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

Epidemiology

The syndrome has been described in four families descending from limited number of ancestors in Quebec.

Etiology

The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex.

Genetic counseling

Transmission is autosomal recessive.