Introduction to Connective Tissue Disorders in Children

ByEsra Meidan, MD, Boston Children's Hospital
Reviewed/Revised Modified Oct 2025
v821589
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Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity. Muscles, bones, cartilage, ligaments, and tendons are built mostly of connective tissue. Connective tissue is also present in other parts of the body, such as the skin and internal organs. The characteristics of connective tissue and the types of cells it contains vary, depending on where it is found in the body. Normal connective tissue is strong enough to hold the weight and tension required for the part of the body it supports.

There are over 200 disorders that involve connective tissue. Specific disorders discussed here include the following:

Some of these disorders have no clear cause, some are inherited, and some develop over time because of tissue damage. Certain inherited disorders cause connective tissue to form abnormally throughout the body. Often the abnormalities caused by connective tissue disorders, whether inherited or not, develop during childhood or adolescence and last throughout life.

Most connective tissue disorders are diagnosed based on the symptoms and findings doctors note during a physical examination. X-rays can reveal bone abnormalities that may be associated with a connective tissue disorder. A biopsy (removal of a tissue sample for examination under a microscope) can also help. The tissue is usually removed using a local anesthetic, which numbs the area. Analysis of genes, from a sample of blood or other cells, may help doctors diagnose some hereditary disorders.

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