Winchester Syndrome; Wnchrs

Description

Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Clinical Features

Top most frequent phenotypes and symptoms related to Winchester Syndrome; Wnchrs

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features
  • Arthritis
  • Corneal opacity
  • Subcutaneous nodule
  • Gingival overgrowth
  • Osteolysis

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Winchester Syndrome; Wnchrs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Winchester Syndrome (sequence analysis of MMP14 gene).

By CGC Genetics (Portugal).

MMP14
Specificity
100 %
Genes
100 %
Winchester Syndrome.

By Centogene AG - the Rare Disease Company (Germany).

MMP14
Specificity
100 %
Genes
100 %
MMP14.

By Fulgent Genetics Fulgent Genetics (United States).

MMP14
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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