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Cockayne syndrome (or "Weber-Cockayne syndrome", or "Neill-Dingwall Syndrome") is a rare, autosomal recessive disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is named after English physician Edward Alfred Cockayne (1880-1956).
Additional recommended knowledge
Forms of Cockayne syndrome
The condition is also classified genetically as follows:
Mutations in the ERCC6 and ERCC8 genes cause Cockayne syndrome. The proteins made by the ERCC8 and ERCC6 genes are involved in repairing damaged DNA by the transcription-coupled repair mechanism, particularly the DNA in active genes. If either the ERCC6 or the ERCC8 gene is altered, DNA damage is not repaired. As this damage accumulates, it can lead to malfunctioning cells or cell death, and the signs and symptoms of Cockayne syndrome.
Small head size, short stature, sunken eyes, "aged" look.
Categories: Genetic disorders | Neurological disorders | Syndromes
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Cockayne_syndrome". A list of authors is available in Wikipedia.|