KID syndrome

Keratitis-ichthyosis-deafness syndrome, autosomal dominant

Overview

Type of disease: Rare conditions

Keratitis ichthyosis deafness (KID) syndrome is a very rare, inherited, multi-system disorder. Less than 100 cases have been reported in the medical literature. It is characterized by defects of the surface of the corneas (keratitis); red, rough, thickened plaques of skin (erythrokeratoderma); and sensorineural deafness or severe hearing impairment. The skin on the palms of the hands and soles of the feet as well as the nails may be affected. KID syndrome belongs to a group of skin disorders marked by dry, scaly skin known as the ichthyoses. KID syndrome is inherited as an autosomal dominant trait and is caused by specific mutations in the GJB2 gene. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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