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Osteogenesis imperfecta (OI)

Osteogenesis imperfecta (os·​te·​o·​gen·​e·​sis - im·​per·​fec·​ta) or OI, or brittle bone disease, is a rare, genetic condition that causes fragile bones.

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What is osteogenesis imperfecta (OI)?

Osteogenesis imperfecta (OI), is commonly known as "brittle bone disease." It is a rare, genetic (passed down from parent to child) condition, meaning a child is born with osteogenesis imperfecta and has it for their entire life.

Children with osteogenesis imperfecta have extremely fragile bones, which may break easily and frequently. The genetic defect that causes the disease affects the non-mineral part of the bone. The result is less bone mass, which causes the bones to be more at risk for fracture.

Other side-effects of osteogenesis imperfecta include problems with muscle mass, hearing loss, dental problems and skin issues.

What are the different types of osteogenesis imperfecta (OI)?

  • Type I - Affecting about 50% of children with OI, this is the mildest and most common type.
  • Type II - This is the most severe type.
  • Type III (severe OI) - Newborns with type III typically have broken bones at birth, and as they get older, their bones can break easily.
  • Type IV (moderately severe OI) - This type of OI is similar to type I, but patients often need crutches or braces to walk.

What are the signs and symptoms of osteogenesis imperfecta (OI)?

Symptoms of osteogenesis imperfecta include:

  • Asthma or other respiratory problems
  • Bone pain
  • Curves in the spine
  • Dental problems
  • Frequent bruises on the skin
  • Hearing loss
  • Lack of height (short)
  • Large head circumference at birth
  • Low bone density
  • Loose joints
  • Muscle weakness
  • Myopia or other vision problems
  • Late closing fontanels (space between bones of skull) during growth from birth to 2 months of age

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