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Overview of Hereditary Connective Tissue Disorders

By David D. Sherry, MD, Professor of Pediatrics, University of Pennsylvania; Director, Clinical Rheumatology, The Children's Hospital of Philadelphia
Frank Pessler, MD, PhD, Helmholtz Centre for Infection Research, Braunschweig, Germany; Hannover Medical School, Hannover, Germany

Muscles, bones, cartilage, ligaments, and tendons are built mostly of connective tissue. Connective tissue is also found in other parts of the body, such as the skin and internal organs. 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

  • Analysis of genes

  • Biopsy

  • X-rays

Most hereditary connective tissue disorders are diagnosed based on their symptoms and findings during a physical examination.

Analysis of genes, usually from a sample of blood, may help doctors diagnose some hereditary disorders.

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.

X-rays can reveal bone abnormalities that may be associated with a connective tissue disorder.