Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a bone disorder that is passed from parents to children. It cannot be acquired; people with OI are born with it. It is also called brittle bone disease. Common issues with OI are breaking bones easily or not having the bones form correctly, leading to bone deformities.

Signs and symptoms vary from case to case and depend on what type of OI you have, which is determined based on how you inherit the disease. The types of OI include:

• Type I – The most common and most mild form of the disease. About half of affected children have Type I OI.
• Type II – This type of OI is the most severe and while it is not lethal upon birth, most babies will die within weeks of birth. Babies may be born with broken bones, underdeveloped lungs, and a softer than normal skull.
• Type III – this is the most severe type for children who live past the first few weeks of birth. Expect legs and arms that are not as long as they should be, trouble breathing, and potential spine and rib fractures. There may also be issues swallowing or breathing.
• Type IV – Symptoms range from mild to severe with Type IV. It may be detected at birth. The baby may not break any bones until they begin movement like crawling or walking. Babies with Type IV may also experience stunted growth and bone deformities in the arms or legs – or they may not.
• Type V – Similar to Type IV. Common to have overgrowth of muscle in areas where there are bone fractures.
• Type VI – This rare type is similar to Type IV.
• Type VII – Similar to Type II or Type IV. May be shorter than normal and experience shorter than normal bones in the arms and legs.
• Type VIII – Similar to Types II and III. May experience soft bones and growth issues.