What Is Osteogenesis Imperfecta Caused By?

How does osteogenesis imperfecta affect the body?

Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause.

The condition affects the body’s ability to produce collagen, a protein in the body’s connective tissue..

How many babies are born with osteogenesis imperfecta?

OI can sometimes be life-threatening if it occurs in babies either before or shortly after birth. Approximately one person in 20,000 will develop brittle bone disease.

Is Oi a disability?

Most people with OI experience physical disability. OI also can cause weak muscles, brittle teeth, a curved spine, and hearing loss. Most forms of OI are caused by abnormal genes that are passed down from one or both parents to their children. There are currently 11 types of OI.

Can you grow out of osteogenesis imperfecta?

OI is a childhood disorder; people grow out of it by their teens. FACT: OI is a genetic disorder that is present throughout a person’s lifetime. Many people with OI have fewer fractures after puberty when growth stops, but the genetic difference remains.

What is the primary cause of 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.

How is osteogenesis imperfecta diagnosed?

Tools for diagnosing osteogenesis imperfecta can include:a complete medical history and physical exam (including ear, nose and throat exam to detect hearing loss*)x-rays.DNA blood test.DXA bone density scan.

Is Osteogenesis Imperfecta a type of dwarfism?

Osteogenesis imperfecta (OI) Type III is a dwarfism condition, with adults generally reaching a height of three feet, although profound short stature is often associated with the other three types as well.

Can you detect osteogenesis imperfecta in the womb?

If OI is moderate or severe, health care providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy. If a parent or sibling has OI, a health care provider can test the DNA of the fetus for the presence of an OI mutation.

Who is most likely to get osteogenesis imperfecta?

Osteogenesis imperfecta occurs equally in girls and boys and among all racial and ethnic groups, affecting six to seven people in every 100,000. An estimated 20,000 to 50,000 people in the U.S. have the condition. The estimated number varies greatly because milder forms of osteogenesis imperfecta can go undiagnosed.

What are the signs of brittle bone disease?

Signs of OI include:bones that break with no known cause or from very minor trauma.bone pain.bone deformity (such as scoliosis or bowlegs)a shorter stature.brittle teeth (called dentinogenesis imperfecta)a blue, purple, or gray tint to the sclera (the whites of the eyes)triangular face shape.More items…

What is osteogenesis imperfecta Type 4?

Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

How can osteogenesis be prevented?

Light exercise and low impact physical activity like swimming and walking are suggested to keep the muscles strong and agile, and strengthen the bones. In severe OI cases, inserting a metal rod through surgery or bracing is suggested to strengthen the bone and reduce the risk of fractures.

How does osteogenesis imperfecta affect the skeletal system?

OI is highly variable, and signs and symptoms range from mild to severe. In addition to broken bones, people with OI sometimes have muscle weakness or joint laxity (loose joints), and they often have skeletal malformations including short stature, scoliosis (curvature of the spine), and bowing of long bones.

Is Osteogenesis Imperfecta painful?

Conclusions: Pain is a common occurrence for children with OI and is both acute and chronic in nature, interfering with children’s daily living activities. OI pain may not be optimally treated because many children experienced moderate to severe pain despite use of analgesics and/or coping strategies.

How long can you live with osteogenesis imperfecta?

Most children born with type I OI live normal, healthy lives into adulthood. Less severe symptoms do not affect life expectancy. Most OI-related deaths result from respiratory failure due to weak lungs. The most severe types will result in death at birth or soon after.

What is Oi medical condition?

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term “osteogenesis imperfecta” means imperfect bone formation.

What organs are affected by osteogenesis imperfecta?

In more severe forms of osteogenesis imperfecta, there may be bone deformities, poor lung development and lung problems, a barrel-shaped chest, poor muscle development in the arms and legs. Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen.