Disease Information for Cockayne syndrome: Definition

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  • Delayed physical and mental development, premature aging, bird-like facies, multiple pigmented nevi, and late immunodeficiency--------------------------------------------------------- Cockayne Syndrome ; CS ; Deafness-Dwarfism-Retinal Atrophy; Dwarfism with Renal Atrophy and Deafness ; Neill-Dingwall Syndrome ; Progeroid Nanism ;three types: Classical Form, Cockayne Syndrome Type I (Type A; Congenital Form, Cockayne Syndrome Type II (Type B)Late Onset, Cockayne Syndrome Type III (Type C)

    Discussion : 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, ie short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria); In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year; An early onset or congenital form of Cockayne Syndrome (CS type II) is apparent at birth (congenital); There is a third form, known as Cockayne Syndrome Type III (CS type III), that presents later in the child’s development and is generally a milder form of the disease; A fourth form; now recognized as Xeroderma pigmentosa-Cockayne syndrome (XP-CS), combines features of both of these disorders------------[NORD 2005]-------------

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