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Disease Information for Cockayne syndrome (Clinical Manifestations)

Synonyms:

Cockayne, Cockayne syndrome, Cockayne syndrome (CS) 1, Cockayne syndrome (disorder), Cockayne syndrome 1, Cockayne's syndrome, Cokayne syndrome, Dwarfism retinal atrophy deafness syndrome, Neill Dingwall syndrome, Progeria Like Syndrome, progeroid syndrome, Syndrome, Cockayne, Syndrome, Progeria Like

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) <br>

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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