At OIC, your child will receive treatment from award-winning doctors in pediatric orthopaedics. We specialize in diagnosing and treating the many symptoms and medical issues that can arise in children with connective tissue disorders. Using our state-of-the-art technology, our goal is to develop a treatment plan that provides maximum healing and relief for your child.
The connective tissues of the skeleton consist of cartilage, bone, tendon, muscle and ligaments. These tissues come together to provide shape and strength to the skeleton so it can provide protection, mobility and produce blood. When your child has a connective tissue disorder, the proteins or components that make up connective tissues can be abnormal for several different reasons. In some cases, it is because they become inflamed or irritated. In others, it is because there is a change in a gene that affects the protein. When these connective tissues do not function properly, the organs that they are found in work less effectively and can experience long-term damage.
The body has 78 organs and the skeleton has 206 bones. Connective tissues are found throughout all of these complex structures. In fact, there are more than 200 of these types of connective tissue disorders.
The most common connective tissue disorders include:
Juvenile rheumatoid arthritis (JRA) is the most common autoimmune connective tissue disorder. In an autoimmune disease, the immune system, which normally attacks foreign invaders like viruses and bacteria, instead starts attacking the body, particularly joints that are made up of tendons, ligaments, cartilage and coverings. Juvenile rheumatoid arthritis can cause pain, swelling, stiffness, limited motion or impaired joint function.
Like juvenile rheumatoid arthritis, scleroderma is an autoimmune condition, though much more rare. It causes connective tissues to become hard or thick, which leads to pain or swelling in the joints and muscles. There are 2 main types of scleroderma: localized and systemic. Localized scleroderma tends to impact mostly the skin and joints. Systemic scleroderma is rarer, and can impact both the skin and internal organs, particularly the lungs.
Systemic lupus erythematosus, the most common type of lupus, is a chronic autoimmune disease in which tissue in every organ of the body—such as the brain, lungs, blood and skin—becomes inflamed. This can cause a wide range of symptoms, from headaches and fatigue to swelling and hair loss. Frequently, early signs include joint pain.
Osteogenesis imperfecta is a genetic disease that is the result of changes in genes that are important to the quality and quantity of collagen in the bone. It causes bones to break easily, even without trauma. It can also cause weak muscles, a curved spine, hearing loss or brittle teeth.
EDS is actually a group of disorders that results from abnormal collagen which is a major protein that forms connective tissues, such as tendon, ligaments, muscles and bone. It can cause symptoms such as extremely loose joints, weak muscle tone, scoliosis (a curve in the spine), or very fragile skin that easily tears or bruises.
Marfan syndrome is a genetic disorder that causes connective tissue to be weaker than normal. It often affects the heart, eyes, blood vessels and skeleton, and can put a child at risk for heart problems. Marfan’s syndrome is present at birth, but may not be detected until later in life.
Congenital muscular torticollis, also called twisted neck, is a condition where an infant is born holding their head tilted to one side. Torticollis is typically noticed when an infant is 6 to 8 weeks old and is more common in firstborn children.
Since there are so many different kinds of connective tissue disorders, signs and symptoms vary widely. However, some of the common symptoms of these disorders include:
However, certain disorders, like rheumatoid arthritis, scleroderma and systemic lupus erythematosus, can sometimes cause serious health problems. For instance, they can create abnormalities in the lungs, causing breathing problems like breathlessness or chronic coughing.
The first step in treating connective tissue disorders is getting the right diagnosis. In some cases, our doctors can diagnose a disorder through a physical exam. Other times, your child might need blood tests, DNA tests or imaging tests such as X-rays, CT scans, or MRIs to confirm a diagnosis.
Treatment for connective tissue disorders not only varies by diagnosis, but is based on your child’s overall health. The treatment team at OIC will work closely with you to design a treatment that is tailored to your child’s specific needs. To learn more about the treatment of a specific connective tissue disorder, click the “Types” tab shown above.
At OIC, our specialists work together to ensure your child’s connective tissue disorder is under control and that they have the best chance to live a full, active life. At OIC, we know that it takes the wisdom and experience from a number of specialties to ensure that our patients’ needs are met. Our team of connective tissue disorders experts is lead by the following specialist:
The expert connective tissue disorders team also includes:
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