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Cockayne syndrome type III
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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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General Information
- Genetics Home Reference (GHR) contains information on Cockayne syndrome type III. 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cockayne syndrome type III. 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 III. Click on the link to go to OMIM and review these resources.