Cockayne Syndrome

The first type of Cockayne syndrome would be CS type I. Patients with CS I usually have normal prenatal growth with beginnings of growth and developmental abnormalities when the patient is around 2 years old. By the time the disease has expressed itself fully, height, weight, and the size of the head are far below the fifth percentile. Impairment of vision, hearing, and central and peripheral nervous system function lead to severe disability. Death typicall

y occurs in the first or second decade.

Cockayne syndrome can be detected in patients as early as one year old, and at times while the baby is still developing.

The prognosis for Cockayne syndrome includes a life expectancy of a maximum of 20 years with CS type I, and a maximum of 7 years in patients with Cockayne syndrome type II. Those with CS type III, live longer lives, and do not have as many abnormalities as those with other forms of CS. Patients may have an array of abnormalities which include retardation, Corneal opacity, Cachectic dwarfism, “wizened” face, slender nose, missing, or hypoplastic teeth, Renal failure, and many, many, more.The inheritance of CS is as follows: CS occurs as a result of a recessive gene, so both parents must be carriers to have a child with CS. (See picture). Since both parents are carriers for cockayne syndrome, this means that their genotypes would have to be Cc x Cc. This means that only 1/4 of the total offspring would have Cockayne syndrome. The genotypes would be CC, Cc, Cc, and cc, which means that Cockayne syndrome is outwardly expressed as th

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