Cockayne syndrome
Cockayne syndrome (pronunciation: koh-KAYN) is a rare and fatal genetic disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.
Etymology
The syndrome is named after the British pediatrician Edward Alfred Cockayne (1880–1956) who first described it in 1936.
Definition
Cockayne syndrome is a disorder characterized by an array of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and the characteristic appearance of premature and rapidly progressive aging.
Symptoms
The symptoms of Cockayne syndrome can vary greatly from one person to another and may include growth failure, neurological impairment, photosensitivity, and premature aging. Other symptoms may include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the nervous system.
Causes
Cockayne syndrome is caused by mutations in the ERCC6 or ERCC8 genes. These genes are involved in repairing damaged DNA, particularly the DNA within active genes. Mutations in either of these genes disrupt the normal repair of damaged DNA, which can lead to a wide variety of health problems.
Diagnosis
Diagnosis of Cockayne syndrome is based on the presence of certain clinical features. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Cockayne syndrome. Treatment is supportive and aims to improve the quality of life and slow the progression of the disease.
Prognosis
The prognosis for individuals with Cockayne syndrome is poor. Most individuals with this condition do not survive past their twenties.
See also
External links
- Medical encyclopedia article on Cockayne syndrome
- Wikipedia's article - Cockayne syndrome
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