Osteogenesis Imperfecta facts for kids

Osteogenesis imperfecta is a genetic disorder that makes bones very weak. It's often called brittle bone disease. This means a person's bones can break easily, sometimes even from small bumps or movements.

This condition happens because of a problem with a gene. Genes are like instructions for our bodies. In OI, the gene that helps make a strong part of our bones, called collagen, doesn't work right. Collagen is like the "glue" that gives bones their strength. When the collagen is weak, the bones become fragile.

Osteogenesis imperfecta is a condition that someone is born with. It is usually passed down from a parent. Sadly, there is no cure for OI, but doctors can help manage the symptoms.

There are different types of Osteogenesis imperfecta, from mild to more severe:

• Type 1 is the most common and often causes bones to break easily. People with Type 1 might also have brittle teeth.
• Type 2 is a very serious form. Babies born with Type 2 often have many bone breaks even before birth.
• Type 3 is also severe. People with Type 3 might have over 100 bone breaks before they are teenagers. Their eyes can have a blue, purple, or grey color. Many also experience hearing loss as they get older.
• Type 4 is similar to Type 1 and Type 3, but its severity can vary.

What Are the Symptoms of Brittle Bone Disease?

People with Osteogenesis imperfecta can have many different signs and symptoms. These can range from mild to very serious.

Some common symptoms include:

• Bones that break very easily.
• Joints that are looser than usual.
• Lower muscle tone, meaning muscles might feel a bit weaker.
• The white part of the eyes (called the sclera) might look blue, purple, or grey.
• A triangular shape to the face.
• A tendency to develop scoliosis, which is a curve in the spine.
• Teeth that are brittle and break easily.

More serious symptoms can include problems with breathing and bones that are not shaped normally.

Who Gets Osteogenesis Imperfecta?

Osteogenesis imperfecta affects both boys and girls equally. It can happen to people from all ethnic backgrounds.

The condition starts when a baby is still growing in the womb. Doctors usually discover OI when a child has many broken bones. They might do DNA tests to check for the condition. About 1 in every 20,000 babies born has Osteogenesis imperfecta.

Images for kids

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  An α1 type I collagen protein

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  Blue sclera in osteogenesis imperfecta

See also

In Spanish: Osteogénesis imperfecta para niños