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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on KID syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on KID syndrome. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss KID syndrome. Click on the link to view a sample search on this topic.
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.