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Connective Tissue Disorders

Organs are responsible for the body’s functions. Each organ is made up of several types of tissue that work together.

If tissues are the building blocks of organs, then connective tissues are the glue—they hold tissue together to give it its shape, keep it strong, and help it do its job.  Cartilage and fat are two types of connective tissue.

When a child has a connective tissue disorder, the proteins that make up the connective tissue become inflamed. These proteins, as well as the body parts they connect to, become damaged.


With 78 tissue-filled organs in the human body, it’s not surprising that there are many types of disorders that can impact connective tissue.

Of the over 200 disorders, some of the most common include:

  • Rheumatoid arthritis (RA): Rheumatoid arthritis is the most common connective tissue disorder. It is an autoimmune disease—the child’s immune system, which normally attacks foreign invaders like viruses and bacteria, attacks her own body instead. RA can cause pain, swelling, stiffness, limited motion, or impaired function in the joints.
  • Scleroderma: This is also an autoimmune condition. It causes the connective tissues to become hard or thick, and it can cause pain or swelling in the joints and muscles.
  • Systemic lupus erythematosus (SLE, or lupus): This is a disease where the connective tissue in every organ of the body—from the brain, lungs, blood, to the skin—becomes inflamed.   
  • Osteogenesis imperfecta (OI): Osteogenesis imperfecta is genetic, meaning it can be passed down through families. OI causes bones to break easily, sometimes for no reason. It can also cause weak muscles, a curved spine, hearing loss, or brittle teeth.
  • Ehlers-Danlos syndrome: This syndrome causes abnormal changes to the skin, blood vessels, joints, and tissues like ligaments or tendons. For example, a child with this condition may have small, fragile blood vessels, joint looseness, or weak internal organs.



With hundreds of connective tissue disorders, there is a wide variety of signs and symptoms. These can include:

  • Fevers
  • Muscle and joint pain, stiffness, or weakness
  • Delays in developing motor skills
  • Bone deformities
  • Low energy


Certain disorders—like rheumatoid arthritis, scleroderma, and systemic lupus erythematosus—can have more serious effects. These disorders can affect the lungs, causing breathing problems like breathlessness or chronic coughing.   



Each type of connective tissue disorder has its own cause. For some types, like osteogenesis imperfecta, the problem could be due to a gene that mutated (changed). Many types, like rheumatoid arthritis and scleroderma, have no known cause. Occasionally, conditions like systemic lupus erythematosus can develop because of a reaction to a medication.


Diagnosing a connective tissue disorder isn’t always easy. In some cases, a physician can diagnose a disorder through a physical exam. Other times, he will need blood tests or imaging tests (e.g., X-rays) to confirm.


Treatment is highly individual. It depends on the type of disorder and on the child’s overall health.  

Many times, a connective tissue disorder can be treated with anti-inflammatory medications, which reduce redness, swelling, and pain.

A child may also have to make some lifestyle adjustments, like changing her diet or scaling back on certain types of physical activity.


Since many types of connective tissue disorder have no known cause, it’s difficult to prevent.


The OIC Connective Tissue Disorders Team

At OIC we draw from a wide range of experts and expertise in order to help children with connective tissue disorders. If you come to OIC for help, your team could include:

The Pediatric Orthopaedist specializes in the musculoskeletal system of children. They provide surgical interventions when necessary such as tendon lengthening.

The Pediatrician reviews medical issues and coordinates the general healthcare of the patient, in addition to working with the orthopaedic surgeon for pre-operative assessments if surgery is indicated and overseeing medical issues for hospitalized patients.

The Nurse Coordinator assists in making sure all medical orders are carried out, and provides case management and nursing assessment for the patient. 

The Orthotist works with the team to prevent unequal or unbalanced muscle groups which can lead to deformities as the child grows.