What Is Brittle Bone Disease?

Brittle bone disease is a lifelong genetic disorder that causes your bones to break very easily, usually without any type of injury, as from a fall. Your doctor may also call it osteogenesis imperfecta.

It affects both sexes and all races equally.

There is no cure for brittle bone disease, but your doctor can treat it.

Causes

Brittle bone disease is passed down through families, or inherited. It’s caused by a defect in a gene that is supposed to make a substance called collagen. Collagen is a protein in your body that forms and strengthens bones. If you don’t have enough of it, your bones become very weak and will break easily.

Most children with brittle bone disease get this gene from only one parent, but it’s possible to get it from both. Sometimes a child doesn’t inherit the gene from either parent, but the gene mutation develops on its own.

Symptoms

The main symptom of brittle bone disease is broken bones. They break very easily. Your child may have a bone break during a diaper change, or even when being burped. Someone with the condition may have only a few broken bones in a lifetime, or may have hundreds of them. Sometimes, babies are born with fractures or get them while growing in their mother’s womb. Other times, symptoms don’t appear until the teen years or later.

General symptoms of brittle bone disease may be mild or very severe. They include:

  • Broken bones (fractures)
  • Bleeding and easy bruising (frequent nosebleeds or heavy bleeding after an injury)
  • Blue color in the white part of the eyes
  • Bowing of the legs
  • Breathing problems
  • Brittle, discolored teeth
  • Curved spine, called scoliosis
  • Feeling very tired
  • Skin that is easily hurt
  • Hearing loss that starts in early adulthood
  • Can’t stand warm temperatures
  • Loose joints
  • Short height
  • Weak muscles and tissues

Doctors group brittle bone disease into types, based on symptoms and number of fractures.The most common types of brittle bone disease are:

Mild

  • Few signs of the condition
  • Little to no bone deformity
  • Number of broken bones from a few to many
  • Height not usually affected
  • May have premature hearing loss
  • Broken bones decrease after puberty
  • Average life expectancy

Continued

Moderate to severe

  • Increased number and frequency of broken bones
  • Babies can be born with many broken bones, an unstable neck, or soft skull
  • Problems with long bones slowly get worse
  • Short height
  • Abnormally shaped spine and rib cage
  • May have a dozen to several hundred broken bones in a lifetime
  • May not be able to move and may need a motorized wheelchair
  • Severe breathing problems can lead to early death

Lethal

  • Babies usually die in the womb or soon after birth
  • Severe fractures and breathing problems cause death soon after birth

Diagnosis

If your baby is born with broken bones, the doctor can diagnose the condition with a physical exam.

Your doctor will examine your child and ask questions about your family and medical history.

Blood and urine tests will rule out other health conditions that can cause weak bones, such as rickets.

Genetic testing can confirm brittle bone disease. Genetic tests can also tell if you or your family members carry the gene.

Treatment

There is no cure for brittle bone disease, but treatment can relieve symptoms, prevent breakage of bones, and maximize movement.

Severe forms of the disease can affect the shape of the rib cage and spine, which can lead to life-threatening breathing problems. Some people may need to be on oxygen.

But in many other cases, people with this condition live a healthy, productive life with monitoring on a regular basis and the right treatment.

That treatment may include:

  • Splints and casts for broken bones
  • Braces for weak legs, ankles, knees, and wrists
  • Physical therapy to strengthen the body and improve movement
  • Medicine to make the bones stronger
  • Surgery to implant rods in the arms or legs
  • Special dental work, such as crowns, for brittle teeth

Other things that could be helpful:

WebMD Medical Reference Reviewed by Carol DerSarkissian on August 30, 2016

Sources

SOURCES:

Texas Children’s Hospital: “Brittle Bone Disease.”

Osteogenesis Imperfecta Foundation: “Facts about Osteogenesis Imperfecta.”

Genetics Home Reference: “Osteogenesis Imperfecta.”

National Institute of Arthritis and Musculoskeletal and Skin Diseases: “What Is Osteogenesis Imperfecta? Fast Facts: An Easy-to-Read Series of Publications for the Public.”

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