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CS Development over the years (pictures) | |||||||||||||||||
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Cockayne Syndrome (CS) is a rare form of dwarfism.
It is genetic and recessively inherited. CS type I or classic CS is the
most common form in which the first year of life is basically normal with the
onset of symptoms in the second year of life. With CS type II or
early-onset CS, the symptoms are displayed within the first year. A
mild form of CS has been identified in which children have only a few
characteristics.
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What are the Characteristic Features of CS?
The following is a list of the most common characteristics noted in reported cases of CS. No one child will necessarily have all the features listed. · Normal first year with onset of symptoms in the second year · Dwarfism · Microcephaly (small head) · Neurodevelopmental delay (progressive) · Mental deficiency (progressive) · Unsteady gait · Sunburns easily · Retinopathy and/or cataracts (progressive) · Hearing loss (progressive) · Dental caries ·
Typical
facial appearance: · Loss of subcutaneous fat · Premature aging · Shortened lifespan
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CS-Development
over the Years
Pictures from Baptiste provided by his father Eric Bixel, France. Webside: http://cockayne.free.fr |
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CS is from a recessive gene, so both parents must be carriers to have a child with CS.
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What are the Chances of Having Another Child with CS?
Once a couple is a known carrier, by having a child with CS, they have a 1 in 4 or 25% chance of having another child with CS.
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Where does the name come from? | |||||||||||||||||
EDWARD ALFRED COCKAYNE (1880-1956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children. | |||||||||||||||||
English physician, born 1880, Sheffield¸ died 1956. Biography Edward Alfred Cockayne was educated
at Charterhouse School and Balliol College, University of Oxford, where he
excelled in the natural sciences. He was an intern at the St.
Bartholomew’s Hospital, London, and qualified in medicine in 1907.
Cockayne became a member of the Royal College of Physicians in 1909,
fellow in 1916, and in 1912 received his doctorate from the University of
Oxford.
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