Some Common Heritable Disorders of Connective Tissue

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Osteogenesis imperfecta
People with osteogenesis imperfecta (OI) have bones that fracture easily, low muscle mass, and joint and ligament laxity. There are six major types of OI, ranging in severity from mild to lethal. The appearance of people with OI varies considerably. Individuals may have a blue or gray tint to the sclera (whites of the eyes), thin skin, growth deficiencies, and fragile teeth. They may develop scoliosis, respiratory problems, and hearing loss. Also known as “brittle bone disease,” this disorder arises from mutations in the two genes that make type I collagen, a protein important to bones and skin. These mutations cause the body to make either too little or poor-quality type I collagen.
Marfan syndrome
People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, “spider-like” fingers. Other problems include skeletal malformations; abnormal position of the lens of the eye; and enlargement at the beginning part of the aorta, the major vessel carrying blood away from the heart. If left untreated, an enlarged aorta can lead to hemorrhage and even death. This disorder results from mutations in the gene that determines the structure of fibrillin-1, a protein important to connective tissue.
Common Heritable Disorders
Epidermolysis bullosa
The characteristic feature of epidermolysis bullosa (EB) is blistering of the skin. Some forms of the disease may involve the gastrointestinal tract, the pulmonary system, the muscles, or the bladder. Most forms are evident at birth. This disorder can be both disabling and disfiguring, and some forms may lead to early death. Blisters result when skin layers separate after minor trauma. Defects of several proteins within the skin are at fault.
Ehlers-Danlos syndrome
The problems present in Ehlers-Danlos syndrome (EDS), a group of more than 10 disorders, include changes in the physical properties of skin, joints, blood vessels, and other tissues such as ligaments and tendons. People with EDS have some degree of joint looseness, fragile small blood vessels, and abnormal scar formation and wound healing. Soft, velvety skin stretches excessively but returns to normal after being pulled. Some forms of EDS can present problems with the spine, including a curved spine, and the eyes. EDS can also lead to weak internal organs, including the uterus, intestines, and large blood vessels. Mutations in several different genes are responsible for varying symptoms in the several types of EDS. In most cases, the genetic defect involves collagen, the major protein-building material of bone.
Source: U.S. Department of Health and Human Services, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Some Common Heritable Disorders of Connective Tissue

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