Cockayne syndrome type 1
Cockayne Syndrome Type 1 (also known as CS1 or Classic Cockayne Syndrome) is a rare genetic disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.
Overview[edit | edit source]
Cockayne Syndrome is a spectrum of disorders with a range of severity. Type 1, the classic form, is the most common and severe type. It is typically recognized in the first few years of life due to developmental delay and growth failure. Other features include severe photosensitivity, eye abnormalities, hearing loss, dental cavities, and a characteristic appearance. Life expectancy is typically in the first or second decade.
Causes[edit | edit source]
Cockayne Syndrome Type 1 is caused by mutations in either the ERCC6 gene or the ERCC8 gene. These genes are involved in repairing damaged DNA, particularly the DNA within active genes (transcription-coupled repair). Mutations in either of these genes disrupt the repair of damaged DNA, leading to cell death and contributing to the features of Cockayne Syndrome.
Symptoms[edit | edit source]
Symptoms of Cockayne Syndrome Type 1 may include:
- Failure to thrive
- Developmental delay
- Photosensitivity
- Eye abnormalities
- Hearing loss
- Dental cavities
- Characteristic appearance (small head size, thinning hair, aged-looking skin)
Diagnosis[edit | edit source]
Diagnosis of Cockayne Syndrome Type 1 is based on clinical features, and can be confirmed by genetic testing for mutations in the ERCC6 or ERCC8 genes.
Treatment[edit | edit source]
There is currently no cure for Cockayne Syndrome Type 1. Treatment is supportive and aims to improve quality of life and slow the progression of symptoms. This may include physical therapy, special education, and treatment of specific symptoms such as dental care and hearing aids.
Prognosis[edit | edit source]
The prognosis for individuals with Cockayne Syndrome Type 1 is poor, with most individuals not surviving past childhood or early adolescence.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Cockayne syndrome type 1 is a rare disease.
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Contributors: Prab R. Tumpati, MD
