Merck Manual

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Overview of Connective Tissue Disorders in Children

By

Frank Pessler

, MD, PhD, Helmholtz Centre for Infection Research

Reviewed/Revised Dec 2022
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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.

Diagnosis

  • 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.

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.

NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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