Cockayne syndrome is a genetic disorder that results in its victims having a short stature and premature aging. It can also result in a patient having a small head, also called microcephaly, hindered development of the nervous system, and photosensitivity. Patients are usually unable to gain weight or grow normally. They may also develop abnormalities in the eyes and problems with their internal organs.
There are several subtypes of Cockayne syndrome. These are type I, type II, and type III. Type I develops in early childhood and manifests itself in the first two years of a person’s life. Type II, also called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II, develops at birth and is the most severe type. Type III is a mild version and manifests itself late in a person’s childhood.
There are two genes associated with Cockayne syndrome: excision repair cross-complementing deficiency, complementation group six (ERCC6) and excision repair cross-complementing deficiency, complementation group eight (ERCC8). These two genes have to do with helping the body repair damaged deoxyribonucleic acid (DNA). Ultraviolet light and toxic substances can cause damage to DNA. However, the human body is prepared for this situation. These two genes produce proteins that repair DNA before cell function is impaired.
ERCC6 gives the body directions for making the protein involved in repairing the damaged DNA. This protein may also assist with transcription, a process in which the blueprint for a gene is made. ERCC8 makes the proteins that help cells recover when their DNA is damaged. When either of these genes is mutated, DNA is not repaired. The build up of the damaged DNA can result in several disorders, Cockayne syndrome being one of them.
A person gets Cockayne syndrome when both of their parents pass the mutated gene onto the child. Cockayne syndrome is passed on in an autosomal recessive pattern, meaning that both copies of a person’s gene would have to be mutated in order for the syndrome to develop. The parents of a person with Cockayne syndrome have one mutated gene and one normal gene. Since the trait for Cockayne syndrome is recessive, the parents will not develop the syndrome. However, a person with Cockayne syndrome will have two copies of the mutated genes in question, receiving one from each parent.
There is no cure for Cockayne syndrome. Treatments for the syndrome can only treat the symptoms of the disease. Sufferers of the disease have to undergo physical therapy in order to maintain ambulation—the ability to walk around—and to prevent contractures—the when the muscles or tendons in the human body permanently shortens. Sufferers will also need to use plenty of sunscreen to limit sun exposure and to keep ultraviolet light from destroying DNA. They may also have to visit several specialists doctors during the course of their treatments.