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Cockayne syndrome type III


Other Names for this Disease
  • Cockayne syndrome type 3
  • Cockayne syndrome type C
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 III. 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. 
  • 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 III. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cockayne syndrome type 3
  • Cockayne syndrome type C
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.