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Cockayne syndrome
What are the symptoms?
The facial features show progressive ageing with thinning of the skin, deep sunken eyes, hair loss and dental decay. There may be loss of motor and intellectual skills with changes in the white matter of brain (leukodystrophy) on an MRI brain scan. Deafness and visual problems due to retinitis pigmentosa will develop. The bones show thinning and the back becomes curved and there will be joint contractures.
One of the hallmarks of the syndrome is sensitivity to the sun leading to blistering and excessive reddening of the skin. This has lead to the recognition that in Cockayne syndrome ultra violet (UV) light can cause damage to the DNA.
Background
| What are the causes? 
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