Cockayne syndrome

Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms ...1

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Symptoms of Cockayne syndrome

People are sensitive to sunlight, have short stature, and have the appearance of premature aging. ...Source: NCBI, Genes and Disease (NCBI/NIH)2 ...

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Complications of Cockayne syndrome

In two disorders in which patients display DNA repair-deficiencies, Xeroderma pigmentosa (XP) and Cockayne's syndrome (CS), patients are extremely sensitive to UV light and exhibit an increased incidence of skin cancer. CS patients show defects in transcription-coupled repair ...3

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Causes List for Cockayne syndrome

Some possible causes of Cockayne syndrome or similar disorders may include:4

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Types of Cockayne syndrome

In the classical form of Cockayne syndrome (Type I), the symptoms are progressive and typically become apparent after the age of 1 year. An early onset or congenital form of Cockayne syndrome (Type II) is apparent at birth. ...Source: NCBI ...5

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Genetics of Cockayne syndrome

After exposure to UV radiation (found in sunlight), people with Cockayne syndrome can no longer perform a certain type of DNA repair, known as "transcription-coupled repair." This type of DNA repair occurs "on the fly" right as the DNA ...6

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)7 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cockayne-syndrome
  2. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22190/ 
  3. Source: NINDS (NIH): ninds.nih.gov/ news_and_events/ proceedings/ dna_meeting_2001.htm
  4. Source: Algorithmically Generated List
  5. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22190/ 
  6. ibid.
  7. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cockayne-syndrome

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