Summary
Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that affect the development the skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related genetic skeletal diseases, GSDs have an overall prevalence of at least 1 per 4,000 children, which extrapolates to a minimum of 225,000 people in the 27 member states and candidate countries of the EU. This burden in pain and disability leads to poor quality of life and high healthcare costs.
Metaphyseal chondrodysplasia, type Schmid (MCDS) results from mutations in collagen X and affects
Metaphyseal chondrodysplasia, type Schmid (MCDS) results from mutations in collagen X and affects
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More information & hyperlinks
Web resources: | https://cordis.europa.eu/project/id/754825 |
Start date: | 01-12-2017 |
End date: | 31-05-2024 |
Total budget - Public funding: | 5 697 390,00 Euro - 5 697 390,00 Euro |
Cordis data
Original description
Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that affect the development the skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related genetic skeletal diseases, GSDs have an overall prevalence of at least 1 per 4,000 children, which extrapolates to a minimum of 225,000 people in the 27 member states and candidate countries of the EU. This burden in pain and disability leads to poor quality of life and high healthcare costs.Metaphyseal chondrodysplasia, type Schmid (MCDS) results from mutations in collagen X and affects
Status
SIGNEDCall topic
SC1-PM-08-2017Update Date
26-10-2022
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