What is Cockayne Syndrome (CS)?
Children with CS who show signs at birth and are classed as having 'severe' CS have an average life span of age 4/5.
Children who have 'moderate' CS and show symptoms around age 12 months, slower to develop skills have an average life span of age 9/10.
Children who have 'milder' CS - they are able to walk/talk and develop symptoms at a later stage usually have a lifespan into their second decade.
The following is a list of the most common characteristics of CS. No child will necessarily have all the characteristics listed.
- Social, jovial personalities
- Sunburns easily
- Progeria (premature ageing)
- Neurological Delay
- Short stature, height <3rd percentile
- Unsteady gait
- Rounded back
- Facial characteristics – deep set small eyes, small slender straight nose
- Dental caries (cavities)
- Retinopathy and/or cataracts (progressive)
- Hearing loss (progressive)
- Cold feet, even on a warm day
- Low body temperature
- Feeding problems
- Chronic vomiting
- Sleeping with eyes open
- White matter abnormalities
- Basal ganglia calcifications
- Liver abnormalities: This problem was generally evidenced by elevated liver enzyme results
- Severe itchiness