What is the Cockayne syndrome?
Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria).
What does Cockayne syndrome affect?
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
Can Cockayne syndrome be detected before birth?
Conclusion: Reliable prenatal diagnosis of the Cockayne syndrome can be made by the demonstration of a strongly reduced recovery of DNA-synthesis in UV-irradiated cultured chorionic villus cells or amniocytes.
Is Cockayne syndrome a Progeroid syndrome?
Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and combined xeroderma pigmentosa-Cockayne syndrome (XP-CS), are associated with an increased risk of developing cancer in the affected individual; two exceptions are Hutchinson–Gilford progeria (HGPS …
Is Cockayne syndrome fatal?
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging.
Why does Cockayne syndrome occur?
Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes . Inheritance is autosomal recessive . Type 2 is the most severe and affected people usually do not survive past childhood. Those with type 3 live into middle adulthood.
How do you deal with Cockayne syndrome?
Various management strategies include the following:
- Physical therapy – Helps to prevent contractures and maintain ambulation.
- Feeding therapy – Including consideration of gastrostomy tube for failure to thrive.
- Management of hearing loss – Ie, hearing aids or other devices, if necessary.
What is the life expectancy of someone with Cockayne syndrome?
Average lifespan for children with type 2 is up to 7 years of age. Cockayne syndrome type 3 (type C) appears later in childhood with milder symptoms than the other types and a slower progression of the disorder. People with this type of Cockayne syndrome live into adulthood, with an average lifespan of 40 to 50 years.
How long do people with Cockayne syndrome live?
How do you prevent Cockayne syndrome?
Administration of antiseizure and antispasticity medications, if necessary. Limitation of UV radiation exposure – Sunscreen should be applied liberally, and excessive sun exposure should be avoided; sunglasses will help with the photosensitivity of the eyes.