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About Mitochondrial Disorders

Connective tissue disorders are caused by one or more changes in a gene or group of genes that tell your body how to make the proteins needed to form connective tissue.

Connective tissue is present throughout your body. It strengthens and gives shape and structure to your organs. Changes in the make-up of connective tissue often impact more than one body part or system. Your bones, eyes, ears, skin, vertebra, , cardiovascular, gastrointestinal and skeletal systems can be affected.

Symptoms often include problems with:

  • Skin that is loose or blisters easliy
  • Bones that are brittle, too long or too short
  • Joints that are too tight or too loose
  • Blood vessels that are weak or controlled
  • Changes in normal facial and head structure
  • Stature that is uncommonly tall or short

There are many rare connective tissue disorders. Some of the more common ones include:

  • Ehlers-Danlos syndrome. This is a group of disorders that affect the skin and joints. They are characterized by hyper-flexible joints, stretchy skin and weakened vascular systems.
  • Epidermolysis bullosa. Defects in skin proteins lead to very fragile skin that tears or blisters after minor stresses, such as friction from clothing. This condition can also impact the digestive and respiratory tracts and muscles.
  • Marfan syndrome. [Link to: PACMAN - Medical Genetics – Marfan syndrome] A change to the gene that makes the fibrillin-1 protein gives people with Marfan syndrome long bones, toes and fingers and serious risks for enlargement and rupture of the aorta, the body’s largest artery. This condition also causes issues with the eyes, ligaments, heart, blood vessels, vertebra, and skeletal system that must be monitored over a lifetime. Many rare connective tissue disorders resemble Marfan syndrome and can be difficult to diagnose.
  • Loeys-Dietz syndrome. This Marfan-like condition is caused by changes in genes that promote tissue growth. There are different types of the condition. Common features include an enlarged aorta, arterial aneurysms, velvety skin that bruises easily, bone, joint and spine malfunctions, elongated limbs and widely spaced eyes.
  • Osteogenesis imperfecta. When mutations to the genes that make type 1 collagen take place, bones are brittle and break easily or for no reason. There are several types of osteogenesis imperfecta.

Many different treatments can lessen pain and reduce complications.

  • How We Can Help