What is Cockayne Syndrome (CS)? 

 
 
 
CS is a rare inherited disease of childhood affecting DNA repair, often characterised by developmental delay, poor growth, progressive neurological problems and a number of features representing premature ageing. At present, this condition remains very poorly understood and many patients with clinical features of CS never receive a clear genetic diagnosis. This means that families are often unable to have carrier testing. There is currently no cure or treatment for CS and the average life expectancy is age 12 years.

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

-       Contractors

-       Unsteady gait

-       Spasticity

-       Micropenis

-       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

-       Tremors

-       White matter abnormalities

-       Basal ganglia calcifications

-       Liver abnormalities: This problem was generally evidenced by elevated liver enzyme results

-       Hypertension

-       Severe itchiness