Explaining Cockayne Syndrome: A Fatal, Genetic Disease Affecting Young Children

Cockayne syndrome is a very rare genetic condition where the body can no longer perform a certain type of DNA repair known as "transcription-coupled repair.

There are two types of Cockayne Syndrome: Type I and Type II (sometimes classified as Type A and Type B). Type I becomes apparent around the age of one year while Type II is present at birth. Cockayne syndrome is the only DNA repair disease that is not linked to cancer; but unfortunately, this disease is always fatal.

Cockayne syndrome is characterized by slow and abnormal growth in the first few years of life. "cachectic dwarfism" describes the appearance of the child with Cockayne syndrome, along with a progeroid (old age) appearance.

Other features of this disease are sensitivity to sunlight; thin, dry hair; hearing loss; dental caries and a characteristic stance with disproportionately long limbs, large hands and feet; joint contractures, especially of the knees, causing a 'horse-riding stance' and severe mental retardation. Other symptoms and characteristics often include:

• Social, happy and jovial personalities

• Sunburns easily

• Progeria (premature aging)

• Shortened life span

• Microcephaly (small head size)

• Neurodevelopment delay

• Short stature, Low body weight

• Contractures

• Unsteady gait

• Spasticity

• Rounded back

• Deep set eyes, small slender straight nose

• Dental cavities

• Retinopathy and/or cataracts

• Hearing loss

• Poor circulation (cold hands and feet)

• Low body temperature

• Mircopenis in males

• Feeding problems

• Sleeping with eyes open

• Tremors

• White matter abnormalities in brain

• Basal ganglia calcifications

• Liver abnormalities; elevated liver enzymes

• Hypertension

• Severe itchiness

The average life span of children with Cockayne syndrome is about 12 years of age. Type I is the most common form of this disease with symptoms appearing during the first few years of life. Type II Cockayne's has more severe symptoms that manifest prenatally. These patients have a shorter life span.

Treatment of patients with Cockayne syndrome is focused on the symptoms. Physical therapy is very important to help prevent contractures and maintain the ability to ambulate (walk). Sunscreen is especially important and excessive exposure to sun should be avoided. Medications are usually not indicated in these patients.

Once a couple has a child with Cockayne syndrome, and is a known carrier, they have a 1 in 4 or 25% chance of having another child with the disease.

This is a very brief overview of Cockayne Syndrome. For further in-depth medical information there are many excellent websites including: http://www.ncbi.nlm.nih.gov/disease/Cockayne.html and the Cockayne Syndrome Homepage: http://www.cockayne-syndrome.net/ especially for families who have children with C.S.