Cockayne syndrome is an inherited disorder in which the genetic material (DNA) in body cells is damaged by ultraviolet radiation. Normally, the body can repair DNA damaged by sunlight, but people with Cockayne syndrome lack the ability to do that.
What are the symptoms?
There are two forms of Cockayne syndrome. The classic type, Type I, becomes apparent after the child is about a year old. Type II, or severe Cockayne syndrome, is apparent at birth.
Because Cockayne syndrome affects many types of body cells, it affects many body systems. Some of its symptoms are:
- pinched, narrow face and beaked nose
- small head for body size (microcephaly)
- mental retardation
- sensitivity to sunlight
- short stature, hunched back (kyphosis)
- tremors, jerky movements, difficulty walking
How is it treated?
There is no cure for Cockayne syndrome, so treatment focuses on relieving symptoms and improving the person's quality of life. Physical and occupation therapy can help maintain joint function and reduce muscle contractures. Other specialists such as a neurologist and orthopedist provide important medical care. The person with Cockayne syndrome must also protect himself from sunlight with clothing and sunscreen, to reduce cell damage.
Information for this article was taken from:
- National Center for Biotechnology Information. Cockayne syndrome.
- Imaeda, S. (2002). Cockayne Syndrome. eMedicine, accessed at http://www.emedicine.com/derm/topic717.htm
