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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cockayne syndrome type I


Other Names for this Disease
  • Cockayne syndrome classic form
  • Cockayne syndrome classical
  • Cockayne syndrome type 1
  • Cockayne syndrome type A
Related Diseases
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Overview

Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay.[1] This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.[2]  Cockayne syndrome type 1 (type A) is sometimes called “classic” or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the “severe” or "early-onset" type.[3] This more severe form presents with growth and developmental abnormalities at birth.[2] The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern.[2] The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.[1]
Last updated: 4/17/2015

References

  1. Cockayne Syndrome Brochure. Share & Care Cockayne Syndrome Network. 2008; http://cockaynesyndrome.net/main/AboutCS.aspx. Accessed 4/17/2015.
  2. Genetics Home Reference. Cockayne Syndrome. May 2010; http://ghr.nlm.nih.gov/condition/cockayne-syndrome. Accessed 4/17/2015.
  3. Vincent Laugel, MD, PhD. Cockayne Syndrome. Gene Reviews. June 14, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1342/. Accessed 4/17/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cockayne syndrome type I. 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. 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.
  • 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. 
    The Online Mendelian Inheritance in Man (OMIM)
    GeneTests
  • 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 Cockayne syndrome type I. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cockayne syndrome classic form
  • Cockayne syndrome classical
  • Cockayne syndrome type 1
  • Cockayne syndrome type A
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.