Description: A rare disorder, Cockayne Syndrome, has diagnostic criteria which includes: small head size, insufficient growth in weight and height (dwarfism), sensitivity to sunlight, hearing loss, tooth decay, bone abnormalities, aged appearance, and cold hands and feet. Changes in the brain viewed by a cat scan are also evidence of the disorder. There are four different types of Cockayne Syndrome which are defined by when the onset of the disease appears.
CS Type I: CS Type I is the most common of Cockayne Syndromes. If CS Type I is present, the newborn will appear normal in the first year of life. Shortly after the first year symptoms will start to appear with height and weight in only the 5th percentile, vision loss, hearing loss, and …show more content…
However, symptoms appear as a young adult and life expectancy is middle adulthood.
XP-CS: XP-CS is an extremely rare disorder that includes symptoms of Cockayne Syndrome and Xeroderma Pigmentosa. Xeroderma Pigmentosa is a genetic disease where the DNA is not able to repair skin cells from ultraviolet light. With both diseases in conjunction the individual will present symptoms of freckling, skin cancer, short stature, cognitive impairment, and sexual underdevelopment.
How it is Transmitted: The onset of Cockayne Syndrome is from mutations in the ERCC6 gene or the ERCC8 gene, which contain information of the construction of proteins that are associated with restoring damaged DNA. One will inherit the condition, when both parents each carry one copy of the mutated gene recessively, which is known as an autosomal recessive pattern. It can be calculated that if a person inherits a normal gene and a gene for the disease, the person will be a carrier for the disease. However, if the individual inherits both defective genes of their parents there is a 25% chance that they will have the disorder, 50% chance they will be a carrier, and 25% chance they will inherit normal
CS Type I: CS Type I is the most common of Cockayne Syndromes. If CS Type I is present, the newborn will appear normal in the first year of life. Shortly after the first year symptoms will start to appear with height and weight in only the 5th percentile, vision loss, hearing loss, and …show more content…
However, symptoms appear as a young adult and life expectancy is middle adulthood.
XP-CS: XP-CS is an extremely rare disorder that includes symptoms of Cockayne Syndrome and Xeroderma Pigmentosa. Xeroderma Pigmentosa is a genetic disease where the DNA is not able to repair skin cells from ultraviolet light. With both diseases in conjunction the individual will present symptoms of freckling, skin cancer, short stature, cognitive impairment, and sexual underdevelopment.
How it is Transmitted: The onset of Cockayne Syndrome is from mutations in the ERCC6 gene or the ERCC8 gene, which contain information of the construction of proteins that are associated with restoring damaged DNA. One will inherit the condition, when both parents each carry one copy of the mutated gene recessively, which is known as an autosomal recessive pattern. It can be calculated that if a person inherits a normal gene and a gene for the disease, the person will be a carrier for the disease. However, if the individual inherits both defective genes of their parents there is a 25% chance that they will have the disorder, 50% chance they will be a carrier, and 25% chance they will inherit normal