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Diseases

Genetic and Rare Diseases Information Center (GARD)

CHILD syndrome


Other Names for this Disease
  • Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects
  • Ichthyosis, CHILD syndrome
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

CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The development of organs such as the brain, heart, lungs, and kidneys may also be affected.[1] Several cases in which milder signs and symptoms have been reported in the medical literature.[2] The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females.[1]
Last updated: 1/28/2010

References

  1. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition=congenitalhemidysplasiawithichthyosiformerythrodermaandlimbdefects. Accessed 1/28/2010.
  2. Bittar M, Happle R, Grzeschik KH, Leveleki L, Hertl M, Bornholdt D, Konig A. Arch Dermatol. March 2006; http://archderm.ama-assn.org/cgi/content/full/142/3/348. Accessed 1/27/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on CHILD 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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 CHILD syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects
  • Ichthyosis, CHILD syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.