Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.
In respect to this, how does brittle bone disease affect development?
It causes bones to break easily. In type 3 OI, your child’s body produces enough collagen but it’s poor quality. Your child’s bones can even begin to break before birth. Bone deformities are common and may get worse as your child gets older.
Just so, is osteogenesis imperfecta considered a disability?
Although Type II Osteogenesis Imperfecta is one of the 88 conditions that qualifies a disability claim for processing under the Compassionate Allowances guidelines, that does not mean that your child’s claim will be automatically approved by the Social Security Administration.
What bones are affected by osteogenesis imperfecta?
In addition, affected infants have extremely fragile bones and numerous fractures present at birth. The ribs and long bones of the legs are often malformed. Infants with OI type II have underdeveloped lungs and an abnormally small upper chest (thorax) that may result in life-threatening respiratory insufficiency.
What causes bone fracture?
Bone fractures are often caused by falls, injury, or because of a direct hit or kick to the body. Overuse or repetitive motions can cause stress fractures. So can diseases that weaken the bone. Symptoms include sudden pain, swelling, and trouble using or moving the injured area.
What is the cause of osteogenesis imperfecta?
Causes and Risk Factors
Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen. The quantity of collagen produced is either lower or of a poorer quality. If one parent has osteogenesis imperfecta, a child has a 50% chance of having the condition.
What is the definition osteogenesis?
Definition of osteogenesis
: development and formation of bone.
What is the difference between brittle bone osteogenesis imperfecta versus osteoporosis?
Osteogenesis imperfecta, known as brittle bone disease, is a genetic disease that results in abnormal bone formation. Brittle bone disease is not the same thing as osteoporosis. Osteoporosis is the loss of bone density, but it does not mean the bones are abnormally formed. However, both conditions cause bone fractures.
What type of mutation causes osteogenesis imperfecta?
About 80%–90% of OI cases are caused by autosomal dominant mutations in the type 1 collagen genes, COL1A1 and COL1A2. Mutations in one or the other of these genes cause the body to make either abnormally formed collagen or too little collagen. Mutations in these genes cause OI Types I through IV.
When was brittle bone disease discovered?
The earliest known case of OI is in a partially mummified infant’s skeleton from ancient Egypt now housed in the British Museum in London. In 1835, Lobstein coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition.
Why is osteogenesis imperfecta called brittle bone disease?
Osteogenesis imperfecta (OI) is a genetic disorder that prevents the body from building strong bones. People with OI might have bones that break easily, which is why the condition is commonly called brittle bone disease.