Genetics & Connective Tissue Disorders

Our bodies are made up of many different muscles, organs, and bones. Connective tissue is a type of tissue in the body that helps to hold everything together, like a glue for your body. We have over 20,000 different genes in the body. These genes are like instruction manuals for how to build a protein, and each protein has an important function that helps to keep our body working how it should. There are many of these proteins that either help to make connective tissue, or help the connective tissue function properly. If someone has a non-working copy of one of these genes, it can cause a connective tissue disorder.

There are thought to be over 200 different disorders that can affect our connective tissue, and they are all quite variable. Some can cause very little health impact, while others can cause serious (sometimes even life-limiting) medical concerns.

As genetic research continues to learn more about our genes and how they affect our bodies, there are likely to be more specific types of connective tissue disorder that are discovered. Some of the more common connective tissue disorders we know about thus far include:

Click here to learn more about scheduling a genetic counseling appointment for questions about pediatric or adult genetic conditions.


Last updated on Sep 19th, 2019