Those with Cockayne syndrome may have the following symptoms:

• the face shows progressive ageing with thinning of the skin, deep sunken eyes, hair loss and dental decay
• loss of motor skills (these allow people to coordinate the movement of parts of their body)
• loss of intellectual skills. If a magnetic resonance imaging (MRI) brain scan is carried out this is apparent by changes in the white matter of the brain (known as leukodystrophy)
• deafness
• development of visual problems due to retinitis pigmentosa
• bones show thinning, the back becomes curved and there will be joint contractures (stiffness of the joint that prevents its full extension)
• sensitivity to the sun leading to blistering and excessive reddening of the skin. This has led to the recognition that in Cockayne syndrome ultra-violet (UV) light can cause damage to a person's DNA.

The underlying cause is known to be a defect in the enzymes that repair DNA after UV damage.

There are two different enzymes (ERCC6 and ERCC8) causing the genetic defect. Diagnosis of the specific enzyme involved requires analysis of the patient's fibroblasts (a type of skin cell), a small amount of which are removed in a harmless process called a biopsy. This analysis is carried out in highly-specialised laboratories.

A patient's sun sensitivity can be reduced by avoiding exposure to UV light and the use of sun-block creams. However, there is no treatment for the progressive neurological degeneration.

Inheritance patterns
The disorder is inherited as an autosomal recessive trait. Clinical features are likely to be similar for affected children within the family but there may be considerable variation in the severity of this disorder between different families.

Prenatal diagnosis
This is available after the skin biopsy studies have been completed and the enzyme deficiency causing the symptoms of Cockayne syndrome has been identified.

Amy and Friends

Tel: 07949 512 968
Email: jayne@amyandfriends.org
www.amyandfriends.org

The Group is a Registered Charity in England and Wales No. 1119746. It provides support to children and families affected by Cockayne Syndrome. The Group offers meetings for members, an annual conference, and a weekly siblings club in Merseyside.   

Group details last updated January 2016.