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Genetic and Rare Diseases Information Center (GARD)

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KID syndrome


Other Names for this Disease

  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant
  • KID syndrome, autosomal dominant
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Overview

What is KID syndrome?

What are the signs and symptoms of KID syndrome?

What is KID syndrome?

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.[1][2]
Last updated: 9/9/2011

What are the signs and symptoms of KID syndrome?

KID syndrome is present at birth. Nearly all cases have skin involvement, which includes red, rough, thickened plaques that are sometimes scaling, as well as sensorineural deafness or severe hearing impairment. Most affected individuals develop eye problems, usually keratitis (cornea defects), which can result in the eyes being very sensitive to light, small blood vessels growing from the iris over the cornea (neovascularization), and progressive vision loss. A small percentage of people may have recurrent or chronic inflammation of the mucous membrane of the eye (conjunctivitis).[1]

Sparse hair or areas of baldness (alopecia) is relatively common, while a complete lack of hair is rare. The palms of the hands and soles of the feet typically have thickened, hardened skin. Less common is absent or abnormal nails. Other associated symptoms may include recurrent infections, abnormal teeth, reduced sweating,. Some of the rare features include an increased risk for developing squamous cell carcinoma of the skin or mucous membranes and life-threatening infections during the newborn period.[1]
Last updated: 9/9/2011

References
  1. Keratitis Ichthyosis Deafness Syndrome. National Organization for Rare Disorders (NORD). 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/884/viewAbstract. Accessed 9/9/2011.
  2. KID syndrome. Orphanet. April 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477. Accessed 9/9/2011.


Other Names for this Disease
  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant
  • KID syndrome, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.