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Cockayne syndrome type II
Other Names for this Disease
- Cerebrooculofacio-skeletal syndrome 1
- Cockayne syndrome type 2
- Cockayne syndrome type B
- COFS 1
- COFS syndrome 1
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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 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]
References
- Cockayne Syndrome Brochure. Share & Care Cockayne Syndrome Network. http://cockaynesyndrome.net/main/AboutCS.aspx. Accessed May 27, 2011.
- Genetics Home Reference. Cockayne Syndrome. http://ghr.nlm.nih.gov/condition/cockayne-syndrome. Accessed May 27, 2011.
- Edward G. Neilan, PhD. Cockayne Syndrome. Gene Reviews. http://www.ncbi.nlm.nih.gov/books/NBK1342/. Accessed May 27, 2011.
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On this page
General Information
- Genetics Home Reference (GHR) contains information on Cockayne syndrome type II. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. 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.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cockayne syndrome type II. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cockayne syndrome type II. Click on the link to go to OMIM and review these resources.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.