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Diseases

Genetic and Rare Diseases Information Center (GARD)

KID syndrome


Other Names for this Disease
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant
  • KID syndrome, autosomal dominant
  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome
  • KID/HID syndrome
  • Senter syndrome
Related Diseases
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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.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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-deafness syndrome, autosomal dominant
  • KID syndrome, autosomal dominant
  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome
  • KID/HID syndrome
  • Senter syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.