Connective Tissue Disorders

Luskin Orthopedic Institute for Children (LuskinOIC) offers treatment from award-winning pediatric orthopedic doctors, specializing in addressing symptoms and medical issues in children with connective tissue disorders. Using state-of-the-art technology, our aim is to create a treatment plan that maximizes healing and relief for your child.

Signs and Symptoms

The human body has 78 organs and the skeleton has 206 bones. Connective tissues are found throughout all of these complex structures, and there are more than 200 types of connective tissue disorders.

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:

• Fevers
• Pain, stiffness, or weakness in the muscles and joints
• Delayed motor skills development
• Bone deformities
• Low energy

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.

Treatment and Recovery

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 varies by diagnosis, and the treatment plan is based on your child’s overall health and needs. The treatment team at OIC will work closely with you to design a treatment that is tailored to your child’s specific needs.

Common Types

The most common connective tissue disorders in children include:

• Juvenile Rheumatoid Arthritis (RA), also known as Juvenile Idiopathic Arthritis (JIA). This 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. Learn More
• Scleroderma. 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. Learn More
• Systemic Lupus Erythematosus (SLE). The most common type of lupus, SLE 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. Learn More
• Osteogenesis Imperfecta (OI). 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. Learn More
• Ehlers-Danlos Syndrome (EDS). 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. Learn More
• Marfan Syndrome. 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. Learn More
• Congenital Muscular Torticollis and Torticollis. Congenital muscular torticollis, also called twisted neck, is a condition in which 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. Learn More

Our Experts in Connective Tissue Disorders

Anthony Scaduto, MD