THE MCDS Patient Registry
Welcome to the official website of the MCDS Patient Registry. We are dedicated to advancing the understanding and care of individuals affected by Metaphyseal chondrodysplasia, Schmid type (MCDS).
This site serves as a resource hub for patients, caregivers, healthcare professionals, and researchers seeking to contribute to improve knowledge and management for individuals with MCDS.
What is Metaphyseal chondrodysplasia, Schmid type (MCDS)?
Metaphyseal chondrodysplasia, Schmid type, also known as MCDS, is a rare genetic condition that falls under the category of skeletal dysplasia. It is caused by mutations in the COL10A1 gene, leading to abnormalities in the growth plate cartilage of the long bones during development. MCDS is inherited in an autosomal dominant manner, meaning that a change in one copy of the gene from either parent is sufficient to cause the condition.
MCDS presents with a spectrum of symptoms that can vary in severity. Common features of MCDS include short stature with short arms and legs bowed legs, and abnormalities in the metaphyseal region of the long bones.
Our Goal
The MCDS Patient Registry is committed to improving our understanding of the impact of Metaphyseal chondrodysplasia, Schmid type. By uniting patients and families around the world, we aim to build a comprehensive database that will serve as a foundation for research and improved patient care.
Through the registry, we seek to create a supportive community, facilitate research collaborations, and empower individuals with MCDS to share their experiences and insights.
Get involved
By becoming part of the MCDS Patient Registry, you can play a vital role in accelerating scientific discoveries, enhancing medical knowledge, and ultimately, improving the quality of life of those living with Metaphyseal chondrodysplasia, Schmid type.
We also invite academic and commercial researchers with an interest in MCDS to contact us to discuss using the registry and its data to support your research.
Explore our website to learn more about the registry and how you can get involved. Join us in our mission to make a meaningful impact on the lives of those with Metaphyseal chondrodysplasia, Schmid type and their families.