Paediatrics (children's doctor)

Osteogenesis Imperfecta

Introduction to Osteogenesis Imperfecta

It 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 can’t be supported properly, so they are easy to fracture.

Written by Doctify Team 27/04/2020

What is Osteogenesis Imperfecta?

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.

What are the causes for Osteogenesis Imperfecta?

Collagen, which is needed to support bones, is malformed or absent due to a genetic mutation.

What are the symptoms of Osteogenesis Imperfecta?

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.

How is Osteogenesis Imperfecta treated?

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.

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