Winchester Syndrome; Wnchrs

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Winchester Syndrome; Wnchrs

MMP14

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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

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Incidence and onset information

— Currently we don't have prevalence information about this disease (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.

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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