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Osteogenesis Imperfecta

Osteogenesis Imperfecta



Overview

Osteogenesis imperfecta (OI) is a connective tissue disease. It makes your bones fragile. You might break a bone with little or no force. That’s why OI is also known as brittle bone disease. It makes your bones weaker and thinner than they should be.

Osteogenesis imperfecta also affects your body’s ability to make collagen properly. Collagen is a protein. It helps develop your:

Bones

Skin

Muscles

Tendons

Osteogenesis imperfecta can cause many broken bones throughout your life. It can also affect your:

Teeth

Skin

Spine

Lungs

Other internal organs

The most common form of osteogenesis imperfecta usually causes mild symptoms. But OI can also cause severe disabilities and be fatal.

Types of osteogenesis imperfecta

Healthcare providers classify osteogenesis imperfecta into 19 types. Types I through IV are the most common.

People with type I have lower amounts of normal collagen than they should. People with types II, III and IV have improperly formed collagen. These types cause more severe symptoms.

Type 1

This is the most common form of OI. It causes milder symptoms than other types. You’ll break bones more easily than usual. But most broken bones happen before puberty. It doesn’t cause bone deformity.

Type II

Type II is the most serious form. Babies with type II die at or shortly after birth. It causes fatal complications like:

Underdeveloped lungs

Serious bone deformities

Multiple broken bones before birth

Type III

Type III is the second most severe form. It causes dangerous bone deformities. This makes your bones very fragile. You’ll live with physical disabilities. Babies with type III are often born with broken bones.

Type IV

Type IV is more severe than type I. But it’s less severe than type III. Your bones will be more fragile than usual. But they won’t break as often as with type III.

Symptoms

Signs and symptoms of this condition can include bone issues like:

Weak bones that break easily

Bone deformities

Bone pain

The white part of your eye looking blue or gray

Barrel-shaped rib cage

Curved spine (kyphosis or scoliosis)

Small stature

Triangular face shape

Weak, brittle or discolored teeth

Teeth that don’t align properly

You might also experience:

Bruising easily

Difficulty breathing

Hearing loss

Loose joints

Muscle weakness

Causes

A genetic change causes this condition. Changes in the COL1A1 or COL1A2 genes cause most cases. Changes in other collagen genes cause rarer types of OI.

The genetic changes that cause OI can be random. You may also inherit them from your biological parents. You’re more likely to have OI if someone else in your biological family has it. Some people have the genetic variation but never develop osteogenesis imperfecta.

You can inherit the gene change from one parent (dominant) or both (recessive), depending on the type of OI.

Complications of brittle bone disease

Complications of osteogenesis imperfecta can include:

Heart disease, including heart failure

Frequent pneumonia

Respiratory issues, including respiratory failure

Nervous system issues

Diagnosis

Healthcare providers usually diagnose brittle bone disease in childhood with:

Genetic testing

Bone density tests

A pregnancy care provider might suspect osteogenesis imperfecta before birth. They may see signs of OI on ultrasound images. They can confirm the diagnosis during pregnancy with an amniocentesis. They can also diagnose it after the baby is born.

Ask your provider about genetic counseling. This can help you understand your risk of passing osteogenesis imperfecta to your biological children.

Treatment

Treatment for osteogenesis imperfecta can increase your bone strength. It can also help you live more independently. You might need:

Occupational therapy: Helps with everyday tasks

Physical therapy: Builds strength in bones and muscles

Assistive devices: Walkers, canes or crutches can improve mobility

Oral and dental care: Regular dental checkups and/or orthodontic care for tooth and jaw issues

Pulmonary care: Manages breathing issues

Medications: Bisphosphonates to strengthen bones

Surgery: Metal rods support curved or fragile bones

Braces, splints or casts: Stabilize bones after breaks or surgery

Type of Doctor Department : An orthopedist

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