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Health Information For Parents
Osteogenesis imperfecta (OI) is a genetic disorder that prevents the body from building strong bones.
People with OI might have bones that break easily, which is why the condition is commonly called brittle bone disease.
Osteogenesis imperfecta (os-tee-oh-JEN-uh-sis im-pur-FEK-tuh) happens because of a defect in the gene that makes the protein collagen. Collagen is an important building block of bones.
People who have OI are born with it. They either don’t have enough collagen in their bones or have collagen that doesn’t work as it should. This makes their bones weaker and more brittle than normal bones. It can also lead to bone deformities. (Deformed bones do not have normal shapes.)
The defect in the gene can be inherited from a parent. Kids with OI often have a parent who has the condition. Sometimes, the defect in the gene happens spontaneously at the time of conception.
The severity of osteogenesis imperfecta can vary. Some people won’t know they have it until they fall and break a bone. For them, the only symptom of OI might be an occasional broken bone. Other people can have many bone breaks without any obvious cause.
Signs of OI include:
Doctors classify the different types of OI based on how severe the condition is. To date, 15 types of OI have been identified.
Most cases of OI have symptoms that fall into one of these four classifications:
Type I osteogenesis imperfecta — people with type I OI have less collagen than normal. This makes their bones fragile, but they don’t have bone deformities. The first break usually happens when a child starts walking. Fractures typically decrease after puberty.
Type II osteogenesis imperfecta — babies with type II OI usually are born with many fractures, are very small, and have severe breathing problems. As a result, most will not survive.
Type III osteogenesis imperfecta — people with type III OI usually will be shorter than their peers, and may have severe bone deformities, breathing problems (which can be life-threatening), brittle teeth, a curved spine, ribcage deformities, and other problems.
Type IV osteogenesis imperfecta — people with type IV OI can have mild to serious bone deformities, short stature, frequent fractures (which may lessen after puberty), and a curved spine.
Besides a family history of OI, doctors look for frequent or unexplained bone fractures, dental problems, blue sclera (the white part of the eye), short stature, and other symptoms as signs that a child has OI.
They might also order tests like:
In severe cases, prenatal testing (such as an ultrasound) can detect fractures and bone deformities before a baby is born.
There’s no cure for osteogenesis imperfecta. Treatment is based on a child’s specific symptoms, and can include physical therapy and mobility aides, occupational therapy, medicine, and surgery. The goal is to prevent fractures, treat them properly when they do happen, preserve mobility and independence, and strengthen bones and muscles.
The treatment team might include a primary care doctor, an orthopedist, rehabilitation specialists, an endocrinologist, a geneticist, a neurologist, and a pulmonologist.
Preventing bone fractures is key for people with OI. They can lower their risk of broken bones by:
When bones do break, it’s important to treat them right away with casts, splints, and braces. Orthopedists (doctors who specialize in treating bone problems) might recommend using lightweight versions of these devices that allow some movement during healing.
Physical therapy (PT) can be helpful for many kids with OI. It can build muscle strength, which helps maintain function, promote aerobic fitness, and improve breathing. Kids who need them can learn how to use mobility aides and assistive devices. In younger kids, PT can help with motor skill development.
Doctors might prescribe bone-strengthening medicines to increase bone density and further reduce the chances of fractures. Some people will need treatment to maintain bone strength for the rest of their lives.
Sometimes, surgery is needed to repair a broken bone or fix a deformity. Surgeons also might place metal rods into long bones (like the femur, tibia, and humerus) to prevent breaks. Surgery also can correct dental problems from brittle teeth, and help with hearing problems.
Bone breaks due to OI usually lessen in early adulthood, although they can start happening again later in life.
Taking steps to prevent fractures — along with early, ongoing medical care — will help most people with OI lead healthy, productive lives.
For more information about osteogenesis imperfecta, visit the Osteogenesis Imperfecta Foundation (OIF) website.
Without bones, muscles, and joints, we couldn’t stand, walk, run, or even sit. The musculoskeletal system supports our bodies, protects our organs from injury, and enables movement.
Many kids will have a broken bone at some point. Here’s what to expect.
Scoliosis makes a personâs spine curve from side to side. Large curves can cause health problems like pain or breathing trouble. Health care providers treat scoliosis with back braces or surgery when needed.
Our bones, muscles, and joints form our musculoskeletal system and enable us to do everyday physical activities.
Everyone’s spine is slightly rounded forward at a gentle angle. If this angle is too pronounced, more than 50 degrees or so, it’s called kyphosis, also known as roundback or hunchback.
Your spine, or backbone, normally curves forward gently as it runs up your back. Sometimes, though, someone’s back can be rounded too far forward, which is a condition known as kyphosis.
Spinal muscular atrophy (SMA) is a condition that causes muscle weakness and atrophy. There’s no cure, but therapy and other treatments can help most people who have SMA.
Blount disease is a growth disorder that affects the bones of the lower leg. It causes bowing of the leg below the knee, which gets worse if it’s not treated.
Blount disease is a growth disorder that causes the bones of the lower leg to bow outward. This gets worse if it’s not treated, so early diagnosis is very important.
Bones are tough stuff – but even tough stuff can break. Find out what happens when a bone fractures.
What happens when you break a bone?
We build almost all our bone density when we’re kids and teens. Kids with strong bones have a better chance of avoiding bone weakness later in life. Here’s how parents can help.
A broken bone needs emergency medical care. Here’s what to do if you think your child just broke a bone.
Occupational therapy can help improve kids’ cognitive, physical, and motor skills and build their self-esteem and sense of accomplishment.
Doctors often recommend physical therapy for kids who have been injured or have movement problems from an illness, disease, or disability. Learn more about PT.
Kids who have trouble walking have many options when it comes to getting around. View the slideshow below to learn more.
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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