Cockayne Syndrome


    [Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall Syndrome) is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. The underlying disorder is a defect in a DNA repair mechanism. It is named after English physician Edward Alfred Cockayne (1880–1956).

    Forms of Cockayne syndrome:

    • CS Type I, the classic form, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Impairment of vision, hearing, and the central and peripheral nervous system progressively degenerate until death in the first or second decade of life.

    • CS Type II, otherwise known as connatal CS, involves very little neurological development after birth. Death usually occurs by age 7. This specific type has also been designated as COFS syndrome. Having said that, COFS syndrome itself is subdivided into several conditions (COFS type 1, 2, 3 (which is itself is associated with Xeroderma Pigmentosum) and type 4).

    • CS Type III is rare and is characterized by late onset. It is milder than Type I and II.

    • Xeroderma-pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from Xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed]. – Wikipedia

    Photos: Mother of 12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome, tends her at the First Affiliated Hospital of Jilin University on November 11, 2006 in Changchun of Jilin Province, China. The disease results in the senile appearance of Yangyang and also causes eyesight, hearing weakness and other problems. Doctors failed to cure the girl... (Photo by China Photos/Getty Images)


    12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome




    12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome




    12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome




    12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome


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Cockayne Syndrome


[Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall Syndrome) is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. The underlying disorder is a defect in a DNA repair mechanism. It is named after English physician Edward Alfred Cockayne (1880–1956).

Forms of Cockayne syndrome:

• CS Type I, the classic form, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Impairment of vision, hearing, and the central and peripheral nervous system progressively degenerate until death in the first or second decade of life.

• CS Type II, otherwise known as connatal CS, involves very little neurological development after birth. Death usually occurs by age 7. This specific type has also been designated as COFS syndrome. Having said that, COFS syndrome itself is subdivided into several conditions (COFS type 1, 2, 3 (which is itself is associated with Xeroderma Pigmentosum) and type 4).

• CS Type III is rare and is characterized by late onset. It is milder than Type I and II.

• Xeroderma-pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from Xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed]. – Wikipedia

Photos: Mother of 12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome, tends her at the First Affiliated Hospital of Jilin University on November 11, 2006 in Changchun of Jilin Province, China. The disease results in the senile appearance of Yangyang and also causes eyesight, hearing weakness and other problems. Doctors failed to cure the girl... (Photo by China Photos/Getty Images)


12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome




12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome




12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome




12-year-old Chinese girl Sun Yangyang suffering from Cockayne syndrome


Add Comments
Bold Italic Underline Strike | Align left Center Align right | Insert smilies Select color | Add Hidden Text Insert Quote Convert selected text from selection to Cyrillic (Russian) alphabet Insert spoiler

It is forbidden to use not normative lexicon, insult other users of the site, active links to other sites, advertising in the comments..