Cockayne Syndrome - Stacie and Luke Shattuck Foundation Inc.

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Cockayne Syndrome - Stacie and Luke Shattuck Foundation Inc. At that time there were no other diagnosed cases of children living with CS. WHAT IS COCKAYNE SYNDROME?

My brother Luke, and I were diagnosed in 1991 at Children’s Hospital in Buffalo, New York, with a rare genetic disorder called Cockayne Syndrome (CS), a form of dwarfism. Cockayne Syndrome (CS), is an autosomal (affects both boys and girls)recessive disease (implies that inheriting two genes, one from each parent is required). CS type 1 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. CS type 2 or early-onset CS, symptoms are displayed within the first year. A mild form of CS type 3 has been identified in which children have only a few characteristics. Cockayne Syndrome is also a leukodystrophy, which is a progressive disorder that affects the brain, and causes a loss of the myelin sheath that surrounds and protects nerve fibers.

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2455 Triplett Boulevard
Akron, OH
44312

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Thursday 9am - 4pm
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