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

General 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.

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.