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Genetic and Rare Diseases Information Center (GARD)

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Netherton syndrome

Other Names for this Disease
  • NETH
  • Netherton disease
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Netherton syndrome is a type of ichthyosis. Symptoms vary but commonly include inflamed, red, scaly skin, short, brittle, lustreless hair, and a predisposition to allergy problems (e.g., to nuts, hay fever, and asthma).  Symptoms may be mild or severe and tend to present in infancy. Failure to thrive and recurrent infection are possible complications in infants with this syndrome. Netherton syndrome is caused by mutations in the SPINK5 gene. It is inherited in an autosomal recessive fashion.[1]
Last updated: 9/14/2011


  1. Netherton syndrome. New Zealand Dermatological Society, Inc. 2005; Accessed 9/14/2011.
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Please contact us with your questions about Netherton syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Netherton syndrome. This website is maintained by the National Library of Medicine.
  • 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

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Netherton syndrome. Click on the link to view a sample search on this topic.