Osteogenesis Imperfecta | Symptoms & Causes

What are the symptoms of osteogenesis imperfecta?

The major symptom of all forms of osteogenesis imperfecta (OI) is bone fragility resulting in frequent fractures. According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health (NIH), there are four major types of OI, each with varying symptoms.

Type I: the mildest and most common type — usually inherited

  • bones fracture easily
  • most fractures occur before puberty (adult women will occasionally have fractures after menopause)
  • can usually be traced through the family
  • near normal stature or slightly shorter
  • blue or blue-gray sclera (the normally white area of the eyeball)
  • dental problems (dentinogenesis imperfecta)
  • hearing loss beginning in one’s 20s or 30s
  • triangular shape to face
  • spinal curvature

Type II: the most severe type — frequently life-threatening

  • newborns severely affected
  • usually results from a new gene mutation
  • extremely small stature; extremely undersized chest; underdeveloped lungs

Type III: severe type — usually no family history

  • fractures at birth very common
  • x-ray may reveal healing of fractures that occurred while in the uterus
  • severe early hearing loss
  • loose joints and poor muscle development in arms and legs
  • barrel-shaped rib cage

Type IV: moderate type — often traced through family lines

  • bones fracture easily — most before puberty
  • normal or near-normal colored sclera
  • teeth may or may not be involved
  • spinal curvature
  • loose joints 

What causes osteogenesis imperfecta?

The most common forms of OI are inherited and can usually be traced through the family.