MEDNIK syndrome

MEDNIK syndrome is a genetic disorder caused by mutations in the AP1S1 gene and believed to be inherited in an autosomal recessive pattern. Its name is an acronym for its features, mental disability, enteropathy, deafness, neuropathy, ichthyosis and keratoderma, and affected people often also show a high forehead, upslanting eyelid folds, a depressed nasal bridge, low-set ears, growth retardation and brain atrophy on imaging. The disorder was discovered by Patrick Cossette's research team at the Universite de Montreal and was first reported in French-Canadian families near Quebec who shared common ancestors.