This is a rare genetic condition where a protein in the body, collagen, is missing or formed of low quality. A lack of this protein means bones cannot be supported properly and so they are easy to fracture. The condition occurs in about 1/20, 000 live births.
The most common sign is repeat fractures occurring under minimal force. Since the bones are weak, they might also have a bowed appearance and be painful. Joints can be very flexible (hypermobility) – a common symptom of all collagen related disorders. The whites of eyes may appear more blue/grey than normal. Children with osteogenesis imperfecta also have a shorter stature than other children.
Collagen, which is needed to support bones, is malformed or absent due to a genetic mutation.
There is no cure for osteogenesis imperfecta but medication can be given. Pamidronate is a bisphosphonate which acts to stop the loss on bone mass. This strengthens the bone and increases bone density so that bones are less prone to breaking.
This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Doctify Limited has used all reasonable care in compiling the information but makes no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. In the event of an emergency, please call 999 for immediate assistance.