Connective Tissue Diseases include Marfan syndrome, Epidermolysis bullosa, Osteogenesis imperfecta and Ehlers-Danlos syndrome
They are sometimes called HDCT's or Heritable Disorders of ConnectiveTissue generally describes a family of more than 200 disorders that affect connective tissues. These disorders result from alterations (mutations) in genes, and thus are called “heritable.”
These disorders result from alterations (mutations) in genes, and thus are called “heritable.”
All of these diseases are directly related to mutations in genes that are responsible for building tissues. Alterations in these genes may change the structure and development of skin, bones, joints, the heart, blood vessels, lungs, eyes, and ears. Some mutations also change how these tissues work.
Some other connective tissue problems are not directly linked to mutations in tissue-building genes, although some people may be genetically predisposed to becoming affected.
The disorders discussed in this fact sheet are called heritable (genetic) disorders of connective tissue (HDCTs). Many, but not all, of them are rare. (See the below for a description of some of the more common HDCTs.)
Some Common Heritable Disorders of Connective Tissue
Physicians and scientists have identified more than 200 heritable connective tissue disorders. Some of the more common ones are listed below. Some of these are really groups of disorders and may be known by other names.
Osteogenesis imperfecta
Some Common Heritable Disorders of Connective Tissue
- Ehlers-Danlos syndrome symptoms include changes in skin, joints, blood vessels, and other tissues such as ligaments and tendons.
- Epidermolysis bullosa has blistering of the skin
- Marfan syndrome problems include skeletal malformations
- Osteogenesis imperfecta - bones that fracture easily, low muscle mass, and joint and ligament laxity
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