Genetic Connective Tissue Disorders

Genetic connective tissue disorders are a group of conditions caused by mutations in genes related to the production of proteins, carbohydrates and other substances that make up connective tissues in our bodies. These tissues are responsible for providing support and structure to organs, muscles, tendons and other tissues. Connective tissue disorders can involve any organ or tissue in the body, and can have effects throughout the entire body. Symptoms of these disorders can vary widely and may include skin problems, fatigue, joint pain, and vision or heart problems. These disorders can be difficult to diagnose, and many are lifelong conditions that require ongoing management and care. Early diagnosis, genetic testing and precise medical treatment can help to improve quality of life and decrease the risk of serious health complications.