Taylor Roppa

Winchester Syndrome (WNCHRS)


What is Winchester Syndrome?

Winchester Syndrome is a rare inherited disease which is characterized by Osteolysis, or the loss of bone tissue, mostly in the hands and feet. It is caused by mutations in different genes. Some people end up in and conditions such as Corneal Opacity (clouding of the front of the eye), hypertrichosis (excess hair growth), overgrowth of gums, heart abnormalities, and distinctive facial features. Winchester Syndrome is caused my the mutation in the MMP14 gene. Matrix metallopeptidase 14 normally helps modify and break down various components of the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. When the MMP14 gene changes it becomes the MMP2 gene, and that causes bones to remodel. The old bones break down and then this genes makes new ones to replace it. Scientists and doctors still do not know how the MMP2 gene causes Winchester Syndrome, but they know it has a lot to do with the process. To have Winchesters Syndrome both parents must carry the mutated gene, and then pass both down to the child.
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Symtoms


  • Coarse facial structure
  • Flat nose
  • Swollen joints
  • Deterioration of bone (mostly in hands, feet and knees)
  • Clouding in the cornea of the eye
  • More teeth than usual
  • Enlarged Tongue

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Side-effect

  • Skin becomes think and leathery
  • Excessive amounts of hair growing
  • Lips and gums thicken
  • Short stature (starts as a child)
  • Bones Weaken

What Can You Do to Prevent it?

Scientists and doctors still do not know how the MMP2 gene causes Winchester Syndrome, but they know it has a lot to do with the process. To have Winchesters Syndrom both parents must carry the mutated gene, and then pass both down to the child. So therefore there is not anything you can really do to prevent your child from developing Winchesters Syndrome.

Treatment
There is no treatment to Winchesters Syndrome. Doctors can not cure, stop or reverse this disorder, although you can go to specialists to relieve some of the symptoms and side effects though therapy.

Where I Can Find More Information About Winchester Syndrome?


http://ghr.nlm.nih.gov/condition/winchester-syndrome/show/Patient+support
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/937/printFullReport
http://ghr.nlm.nih.gov/condition/winchester-syndrome