Overview of Hereditary Connective Tissue Disorders
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
Cutis laxa (see Cutis Laxa)
Ehlers-Danlos syndrome (see Ehlers-Danlos Syndrome)
Marfan syndrome (see Marfan Syndrome)
Osteochondrodysplasias (see Osteochondrodysplasias)
Osteogenesis imperfecta (see Osteogenesis Imperfecta)
Pseudoxanthoma elasticum (see Pseudoxanthoma Elasticum)
Nail-patella syndrome (see Nail-Patella Syndrome)
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.
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.