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Overview of Connective Tissue Disorders in Children


Frank Pessler

, MD, PhD, Hannover, Germany

Last full review/revision Oct 2020| Content last modified Oct 2020
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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. Connective tissue is strong and thus able to support weight and tension.

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

Some of these disorders have no clear cause, and some are inherited. Certain hereditary disorders cause connective tissue throughout the body to form abnormally. In general, hereditary connective tissue disorders develop in childhood but last throughout life.


  • A doctor's evaluation

  • X-rays

  • Biopsy

  • Analysis of genes

Most hereditary connective tissue disorders are diagnosed based on their symptoms and findings 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, usually from a sample of blood, may help doctors diagnose some hereditary disorders.

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