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Disorders of the Connective Tissue
Connective tissues are made of proteins and fats. They support your body’s organs and it gives your tissues their shapes. Cartilage is an important connective tissue. It is stiff, but more flexible than bone. Cartilage helps your bones move and glide over each other. It also gives shapes to body parts such as your nose and ears.

Connective tissue may be damaged by injury or through an infection. It also can be damaged by a large number of genetic disorders that occur rarely in the population. A few of them are described below.

Ehlers-Danlos syndrome
Ehlers-Danlos syndrome refers to a collection of related disorders that weaken connective tissues. Symptoms may be mild or life threatening. They include:

• heart valves that leak
• weakened blood vessels
• loose joints
• abnormal wound healing
• soft, stretchy skin that bruises easily
• muscle weakness
• joint dislocations

Ehlers-Danlos syndrome is an inherited disorder. Treatment involves managing symptoms and learning how to protect the joints and prevent injuries.

Marfan syndrome
Marfan syndrome is a disorder of connective tissue that is due to mutations in gene that codes for a connective tissue protein called fibrillin. Symptoms may be mild to severe. Often, people with Marfan syndrome are tall and thin and have loose joints. Their fingers and feet may be unusually long. Other symptoms may include the following:

• heart valves that leak
• weakened blood vessels
• curvature of the spine
• flat feet
• sudden lung collapse, sometimes asthma
• nearsightedness and problems with the eye lens
• stretch marks on the skin
• teeth that are crowded together

Marfan syndrome is an inherited disorder. Treatment involves managing symptoms and adopting physical activity guidelines that are specific to each person.

Osteogenesis Imperfecta
Osteogenesis imperfecta is an inherited disorder that cause bones weakness. The disorder is caused by mutations to a gene involved with making the protein collagen. Sometimes, bones break for no apparent reason. Symptoms can be mild to severe. Other symptoms may include the following:

• muscle weakness
• curvature of the spine
• loose joints
• hearing loss
• skin that bruises easily
• brittle teeth

Treatment involves exercise, physical therapy, braces, and surgery.

Scleroderma is a group of related disorders involving abnormal growth of connective tissue. One type of scleroderma affects only the skin. Another type can also affect other body systems. The cause of scleroderma is not known. It is more common in females than males. Other symptoms may include:

• calcium deposits in connective tissues
• narrowing of blood vessels in the hands and feet
• swelling of the esophagus (tube between the throat and stomach)
• thick, tight skin on fingers
• red spots on hands and face

Treatment involves managing the symptoms.

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