/MEDNIK syndrome

MEDNIK syndrome

Rare Disease

MONDO:0012251

Also Known As

erythrokeratodermia variabilis 3erythrokeratodermia variabilis, Kamouraska typeintellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermiaintellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndromemental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermiaMEDNIKintellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermamental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma

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).