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

Diseases

Genetic and Rare Diseases Information Center (GARD)

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 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.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Cockayne syndrome
    Genetics of Cockayne Syndrome
  • 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.