KID syndrome

Overview

KID syndrome: Acronym for the Keratitis- Ichthyosis-Deafness syndrome, a genetic disorder. Keratitis-ichthyosis-deafness syndrome: An inherited disorder in which affected persons have: * Keratitis -- gradual destruction of the cornea of the eye, sometimes leading to blindness * Ichthyosis -- localized areas of disfiguring reddish thickened skin ("fish skin") * Deafness -- at birth Another characteristic feature is thin or even absent scalp hair. Some patients have developed carcinoma of the tongue while others have subtle abnormalities of the nervous system. The KID syndrome is inherited as an autosomal dominant trait. The cause of the syndrome is mutation in the GJB2 (connexin 26) gene. The mutations in GJB2 involve one of the following amino acid substitutions: glycine replaced by arginine at position 12 (Gly12Arg), serine replaced by phenylalanine at position 17 (Ser17Phe), or aspartic acid replaced by tyrosine at position 50 (Asp50Tyr). The disease is also called the KID syndrome, an acronym for Keratitis-Ichthyosis-Deafness. Keratitis-ichthyosis-deafness syndrome, autosomal recessive: Another name for Ichthyosiform erythroderma, corneal involvement, deafness (or close medical condition association).

Symptoms

The list of signs and symptoms mentioned in various sources for Ichthyosiform erythroderma, corneal involvement, deafness includes the 6 symptoms listed below: * Red scaly skin patches * Thickened patches of skin * Sensorineural deafness * Scarring alopecia * Keratitis * Impaired sweating Note that Ichthyosiform erythroderma, corneal involvement, deafness symptoms usually refers to various symptoms known to a patient, but the phrase Ichthyosiform erythroderma, corneal involvement, deafness signs may refer to those signs only noticable by a doctor.

Causes

Sensorineural deafness

Diagnosis

These home medical tests may be relevant to Ichthyosiform erythroderma, corneal involvement, deafness: * Ear Infections: Home Testing: o Home Ear Infection Tests o Home Ear Tests o Home Hearing Tests * Home Andropause Tests * Prostate Health: Home Testing: o Home Prostate Tests o Home PSA Antigen Tests o Home Testosterone Tests * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests