What is osteogenesis imperfecta?

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Osteogenesis imperfecta is a genetic condition of the bone, which can make a person’s bones break easily with little impact or for no known reason. If you are researching what is osteogenesis imperfecta, you should know that this condition differs in severity from person to person. While one person with this condition could get a few fractures in their lifetime, some could get hundreds of fractures.

What is osteogenesis imperfecta?

What is osteogenesis imperfecta?

This genetic condition manifests as a defect when the collagen—the protein that affects the structure of the bone—is too low or completely missing. When this happens, the bones are often weak and brittle, making them easy to fracture.

Signs and symptoms of osteogenesis imperfecta

The following signs and symptoms are usually present:

• The bones fracture quite easily even without much impact, though the frequency of fracture might differ from person to person

• People with OI usually have weakness in the muscles

• The joints also tend to be very loose and too flexible

• There’s usually some bone deformity, and the severity may differ from person to person

• People with this genetic condition sometimes have triangular faces

• Their teeth may or may not be brittle depending on the type of OI they have

• Children with osteogenesis imperfecta are usually much smaller than their age

• Underdeveloped lungs may cause breathing problems for people with OI

• People with OI often have spinal curvature due to the disease

• This condition can cause progressive hearing loss, leading to total hearing loss by adulthood

• Tiredness is another symptom of osteogenesis imperfecta, as children with this condition tend to tire quite easily

• Bone and joint pain is also a major symptom of OI

• The whites of the eyes may take on noticeable blue or a grey tint

• The bones may be unusual in terms of shape and size, which means they may appear unnaturally bowed or shorter than normal

Who is at risk of getting OI?

A child could be born with the condition if they inherit the genetic defect from the parent.

It is possible to give birth to a child with OI even when the parents don’t carry the mutation in their genes. If you are actively researching what is osteogenesis imperfecta, then you should know that sometimes the condition is present due to a random genetic mutation that has nothing to do with the parents.

Due to the genetic nature of OI, people from families where there is OI could potentially carry the gene, which then makes it possible to pass it on to their children. Siblings of people with OI can carry out tests to ascertain whether or not they carry the gene. This often helps in preventing the chances of passing it on to future kids.

There are pre-natal tests to determine whether a fetus has this condition. Some parents who are carriers of the gene sometimes want to know ahead of time.

what is osteogenesis imperfecta

How to diagnose OI

To diagnose OI, the doctor will first of all perform a physical examination. The next step is to request the child’s medical history. To get a complete picture of the extent of the condition, the doctor will perform bone density scans. X-rays can help with checking for bone fractures.

Treating osteogenesis imperfecta

According to the National Institute of Child Health and Human Development, there is no cure for OI. However, early intervention makes it possible to arrest the condition on time and improve the quality of life of people living with this condition.

To ensure that OI doesn’t severely disrupt a person’s life, the following symptom treatment options are usually put in place:

• Physical therapy
A comprehensive physical therapy program can help in strengthening the muscles. Aerobic conditioning can allow the person to use their muscles without too much pain.

• Fracture management
Fractures can heal faster when doctors splint, cast or brace the bones. If you want to know what is osteogenesis imperfecta and the kind of fracture care available, then you should know that doctors have to create a balance between fixing fractures and making sure that these bones aren’t held in place for too long. Bracing or splinting for too long could lead to bone weakness.

• Surgery
Surgical procedures can address bone deformity. Also, rodding, a surgical procedure which makes it possible to place metal rods in the legs to strengthen the legs and prevent fractures, is a popular treatment option for people with OI.

Resources: NHS

National Institute of Child Health and Human Development 

Also Read: The toddler's fracture: A common fracture of the tibia

Written by

Julie Adeboye