Cockayne syndrome is a rare inherited disorder in which people are sensitive to sunlight, have short stature and have the appearance of premature aging. Cockayne syndrome can be shared into subtypes, which are distinguished by the severity and age of onset of symptoms.
Hearing loss and eye abnormalities are other common features, but problems with any or all of the internal organs are possible. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood. Cockayne syndrome, type II is an early-onset form with severe symptoms that are apparent at birth (congenital).
Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II. A few cases of type III Cockayne syndrome, which has mager symptoms and onset in late childhood, have been reported. Some individuals have combined features of Cockayne syndrome and another photosensitivity disorder called xeroderma pigmentosum, which is characterized by a wide range of skin changes, from mild freckling to skin cancer. Patients are at risk for postnatal growth failure, pigmentary retinal degeneration, and premature death before adulthood.
Profound growth failure started within the first year of life. Weight is affected more than length, and cachectic dwarfism results. Pigmentary retinal degeneration diagnostic criterion for CKN1 (salt-and-pepper appearance in the retinas) develops later in life. Cataracts are the second most common eye finding. Premature death appearance of aging in children with Cockayne syndrome is striking. There is no cure for Cockayne syndrome, but 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. Educational programs and assistive devices for those with Cockayne syndrome are individualized. Spasticity may be alleviated by medication. Hearing loss, cataracts and other ophthalmologic complications, and dental caries are treated as in the general population. Use of sunscreens and sunglasses and avoidance of excessive sun exposure are helpfiul.
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