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The Merck Manual--Second Home Edition logo
 
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Chapter 279. Hereditary Connective Tissue Disorders
Topics: Introduction | Ehlers-Danlos Syndrome | Marfan Syndrome | Pseudoxanthoma Elasticum | Cutis Laxa | Mucopolysaccharidoses | Osteogenesis Imperfecta | Chondrodysplasias | Osteopetroses
 
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Introduction

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 (see Section 5, Chapter 58).

Certain hereditary disorders cause connective tissue throughout the body to form abnormally. In general, the hereditary connective tissue disorders develop in childhood but last throughout life. Muscular dystrophies are a group of hereditary muscle disorders that lead to muscle weakness (see Section 5, Chapter 73).

Most hereditary connective tissue disorders are diagnosed by their symptoms and findings on a physical examination. Analysis of genes, usually from a blood test, may help doctors diagnose some hereditary disorders. Biopsy (removal of a tissue sample for examination under a microscope) can also help; the tissue is usually removed using local anesthesia. X-rays can reveal bone abnormalities.

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