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Genetics Home Reference: your guide to understanding genetic conditions
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Cockayne syndrome

Reviewed May 2010

What is Cockayne syndrome?

Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans.

Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after age 1 year). Type II Cockayne syndrome has much more severe symptoms that are apparent at birth (congenital). Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II. Type III Cockayne syndrome has the mildest symptoms of the three types and appears later in childhood.

How common is Cockayne syndrome?

Cockayne syndrome occurs in about 2 per million newborns in the United States and Europe.

What genes are related to Cockayne syndrome?

Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. Cells are usually able to fix DNA damage before it causes problems. However, in people with Cockayne syndrome, DNA damage is not repaired normally. As more abnormalities build up in DNA, cells malfunction and eventually die. The increased cell death likely contributes to the features of Cockayne syndrome, such as growth failure and premature aging.

Related Gene(s)

Changes in these genes are associated with Cockayne syndrome.

  • ERCC6
  • ERCC8

How do people inherit Cockayne syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Cockayne syndrome?

These resources address the diagnosis or management of Cockayne syndrome and may include treatment providers.

  • Gene Review: Cockayne Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cockayne)
  • Gene Tests: ERCC6-Related Cockayne Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/250512)
  • Gene Tests: ERCC8-Related Cockayne Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/250510)
  • MedlinePlus Encyclopedia: Failure to Thrive (http://www.nlm.nih.gov/medlineplus/ency/article/000991.htm)
  • Share & Care Cockayne Syndrome Network: Diagnosis and Management of Cockayne Syndrome (http://www.cockaynesyndrome.net/main/AboutCS.aspx)

You might also find information on the diagnosis or management of Cockayne syndrome in Educational resources (http://ghr.nlm.nih.gov/condition/cockayne-syndrome/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/cockayne-syndrome/show/Patient+support).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Cockayne syndrome?

You may find the following resources about Cockayne syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Failure to Thrive (http://www.nlm.nih.gov/medlineplus/ency/article/000991.htm)
    • Encyclopedia: Microcephaly (http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm)
    • Health Topic: Growth Disorders (http://www.nlm.nih.gov/medlineplus/growthdisorders.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=6122)

  • Additional NIH Resources - National Institutes of Health

    • National Center for Biotechnology Information: Genes and Disease (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.159)
    • National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/disorders/cofs/cofs.htm)

  • Educational resources - Information pages

    • Madisons Foundation (http://www.madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=422)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=191)
    • Swedish Information Center for Rare Diseases (http://www.socialstyrelsen.se/rarediseases/cockaynesyndrome)

  • Patient support - For patients and families

    • Family Village (http://www.familyvillage.wisc.edu/lib_cock.htm)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/176/viewAbstract)
    • Share & Care Cockayne Syndrome Network (http://cockaynesyndrome.net/)
    • The MAGIC Foundation: Failure to Thrive (http://www.magicfoundation.org/www/docs/11.2124/failure_to_thrive_children.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cockayne)

  • Gene Tests - DNA tests ordered by healthcare professionals

    • Gene Tests: ERCC6-Related Cockayne Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/250512)
    • Gene Tests: ERCC8-Related Cockayne Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/250510)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22cockayne%20syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(Cockayne%20Syndrome%5BMAJR%5D)%20AND%20(Cockayne%20syndrome%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • Online Books - Medical and science texts
    Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystrophy (http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=ommbid&c=28)

  • OMIM - Genetic disorder catalog

    • CEREBROOCULOFACIOSKELETAL SYNDROME 1 (http://omim.org/entry/214150)
    • COCKAYNE SYNDROME, TYPE A (http://omim.org/entry/216400)
    • COCKAYNE SYNDROME, TYPE B (http://omim.org/entry/133540)
    • COCKAYNE SYNDROME, TYPE III (http://omim.org/entry/216411)

What other names do people use for Cockayne syndrome?

  • CS
  • dwarfism-retinal atrophy-deafness syndrome
  • progeria-like syndrome
  • progeroid nanism

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Cockayne syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Cockayne syndrome?

atrophy ; autosomal ; autosomal recessive ; cataract ; cell ; congenital ; DNA ; DNA damage ; dwarfism ; failure to thrive ; free radicals ; gene ; kyphoscoliosis ; microcephaly ; molecule ; mutation ; nervous system ; nucleotide ; nucleotide excision repair ; photosensitivity ; protein ; radiation ; recessive ; sensitivity ; short stature ; sign ; stature ; symptom ; syndrome ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Bender MM, Potocki L, Metry DW. What syndrome is this? Cockayne syndrome. Pediatr Dermatol. 2003 Nov-Dec;20(6):538-40. (http://www.ncbi.nlm.nih.gov/pubmed/14651579?dopt=Abstract)
  • Cleaver JE, Lam ET, Revet I. Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity. Nat Rev Genet. 2009 Nov;10(11):756-68. Epub 2009 Oct 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19809470?dopt=Abstract)
  • Gene Review: Cockayne Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cockayne)
  • Hanawalt PC. DNA repair. The bases for Cockayne syndrome. Nature. 2000 May 25;405(6785):415-6. (http://www.ncbi.nlm.nih.gov/pubmed/10839526?dopt=Abstract)
  • Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NG, Sarasin A, Stefanini M, Lehmann AR. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008 May 3;7(5):744-50. Epub 2008 Mar 10. (http://www.ncbi.nlm.nih.gov/pubmed/18329345?dopt=Abstract)
  • Komatsu A, Suzuki S, Inagaki T, Yamashita K, Hashizume K. A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene. Am J Med Genet A. 2004 Jul 1;128A(1):67-71. (http://www.ncbi.nlm.nih.gov/pubmed/15211661?dopt=Abstract)
  • Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. 1992 Jan 1;42(1):68-84. Review. (http://www.ncbi.nlm.nih.gov/pubmed/1308368?dopt=Abstract)
  • Pasquier L, Laugel V, Lazaro L, Dollfus H, Journel H, Edery P, Goldenberg A, Martin D, Heron D, Le Merrer M, Rustin P, Odent S, Munnich A, Sarasin A, Cormier-Daire V. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Arch Dis Child. 2006 Feb;91(2):178-82. (http://www.ncbi.nlm.nih.gov/pubmed/16428367?dopt=Abstract)
  • Weidenheim KM, Dickson DW, Rapin I. Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration. Mech Ageing Dev. 2009 Sep;130(9):619-36. Epub 2009 Jul 30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19647012?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2010
Published: May 14, 2012