All types of OI have some degree of bone fragility and fracturing, and many have some degree of bone deformity.
The symptoms of OI vary by type:
The bone deformities and collagen defects common to OI can affect various internal organs, leading to secondary problems. These include:
People with OI are more vulnerable to lung problems, including asthma and pneumonia. Viral and bacterial infections can become severe. In fact, respiratory failure is the most common cause of death in people with OI.
Lung problems result from a combination of factors. If the ribs and spine do not develop normally, there may be less space for the lungs to expand. Collagen also is an important building block of connective tissue in the lungs. If the body does not make enough collagen, or makes abnormal collagen, the lungs do not work properly. This makes it difficult for people with OI to get enough oxygen through their bodies. In addition, they may have problems coughing effectively to clear away mucus.1
Heart problems, such as incorrectly working valves and arteries, sometimes occur in people with OI.
People with OI often have enlarged heads, called macrocephaly (pronounced mak-roh-SEF-uh-lee). They can also have a condition called hydrocephalus (pronounced hahy-druh-SEF-uh-luhs), in which fluid builds up inside the skull, causing the brain to swell.
People with severe OI often have basilar (BAS-uh-ler) invagination (pronounced in-vaj-uh-NEY-shuhn), a malformation of the spinal column that puts pressure on the spinal cord and brain stem. It worsens over time and can cause severe headaches, changes in facial sensation, lack of control over muscle movements, and difficulty swallowing. If untreated, basilar invagination can lead to rapid neurological decline and inability to breathe.2,3,4
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