How Common Is Osteogenesis Imperfecta?
This condition affects an estimated 6 to 7 per 100,000 people worldwide. Types I and IV are the most common forms of Osteogenesis Imperfecta, affecting 4 to 5 per 100,000 people.


How Do People Inherit Osteogenesis Imperfecta?
Most cases of Osteogenesis Imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV Osteogenesis Imperfecta inherit a mutation from a parent who has the disorder.

Most infants with more severe forms of Osteogenesis Imperfecta (such as type II and type III) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene. Less commonly, Osteogenesis Imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means two copies of the gene in each cell are altered.

The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. Some cases of Osteogenesis Imperfecta type III are autosomal recessive; these cases usually result from mutations in genes other than COL1A1 and COL1A2. When Osteogenesis Imperfecta is caused by mutations in the CRTAP or LEPRE1 gene, the condition also has an autosomal recessive pattern of inheritance.


What Other Names Do People Use For Osteogenesis Imperfecta?
Few other names of Osteogenesis Imperfecta are ...

• Brittle bone disease

• Fragilitas ossium

• OI

• Vrolik disease

• Stay calm, especially when a child has a fracture.
  
  

• Do a quick assessment? Check if the person is conscious, breathing and trying to move. If there is any danger of a neck or back injury or any doubt about the person's condition, immediately call 911.
  
  

• Do a thorough assessment - determine how the accident happened and where It hurts. Gently touch the arms and legs down the length of each, one at a time.
  
  

• Move the broken bone only if necessary and as gently as possible.
  
  

• Treat the pain. Elevate the broken limb on a pillow if possible and apply an ice bag (or bag of frozen vegetables wrapped in a dish towel).
  
  

• Contact the orthopaedic surgeon or primary care physician and determine whether an ambulance is needed or if the injured person can be transported by private car.
  
  

• Decide whether to go to the doctor's office or the Emergency Room. Call ahead before leaving for the doctor's office. Know if your health plan requires notification before an Emergency Roo visit.
  
  

• Determine whether a trained parent or friend can temporarily immobilize the injured body part. A splint often makes transport more comfortable. Splint the bone in the position in which it is found; never try to straighten the bone.

Avoid angry words or saying things you will regret later. When OI is involved, breaks occur even when everyone does everything right.