Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Cockayne syndrome


Other Names for this Disease

  • Cockayne's syndrome
  • Dwarfism-retinal atrophy-deafness syndrome
  • Progeria-like syndrome
  • Progeroid nanism
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

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 neonate, 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” Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the “connatal” type.[3] This type is a more severe form in which growth and developmental abnormalities are present 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 ineither the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern.[2] Individuals with type 1 or 2 usually do not survive past childhood, whereas those with type 3 live into adulthood.[1]
Last updated: 5/31/2011

References

  1. Cockayne Syndrome Brochure. Share & Care Cockayne Syndrome Network. 2008; http://cockaynesyndrome.net/main/AboutCS.aspx. Accessed 5/27/2011.
  2. Genetics Home Reference. Cockayne Syndrome. May 2010; http://ghr.nlm.nih.gov/condition/cockayne-syndrome. Accessed 5/27/2011.
  3. Edward G. Neilan, PhD. Cockayne Syndrome. Gene Reviews. 2006; http://www.ncbi.nlm.nih.gov/books/NBK1342/. Accessed 5/27/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Cockayne syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • Medscape Reference has two articles on this topic from the perspective of Dermatology and Pediatrics. You may need to register to view the information online, 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
Other Names for this Disease
  • Cockayne's syndrome
  • Dwarfism-retinal atrophy-deafness syndrome
  • Progeria-like syndrome
  • Progeroid nanism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.