MEDNIK syndrome
MEDNIK syndrome
Definition
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).
Also known as erythrokeratodermia variabilis 3, erythrokeratodermia variabilis, Kamouraska type, intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome, intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia — per MONDO