Quick Answer: How Is OI Diagnosed?

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..

Can osteogenesis imperfecta be detected 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.

What percent of the population has osteogenesis imperfecta?

Osteogenesis imperfecta affects approximately 1 in 10,000 to 20,000 people worldwide. An estimated 25,000 to 50,000 people in the United States have the condition.

How common is osteogenesis imperfecta Type 2?

Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays , and dark sclera. The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown.

What age group does osteogenesis imperfecta affect?

It is characterised by bones that fracture easily and also bend. By the age of 6 years, the child has usually had multiple fractures and developed severe deformities. Children surviving till adulthood usually have short stature and disability. Type 4: in terns of severity lies somewhere in between types 1 and 3.

Can Oi be cured?

To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta (OI). The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible. Treatments for preventing or correcting symptoms may include: Care of fractures.

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 parts of the body does osteogenesis imperfecta affect?

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.

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.

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.

Is Osteogenesis Imperfecta painful?

Background: Pain is a common symptom of osteogenesis imperfecta (OI) among children and adolescents.

What is the life expectancy of someone with osteogenesis imperfecta?

Outlook / Prognosis 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.

How does a baby get osteogenesis imperfecta?

The gene may be inherited from one or both parents. Or the gene can be passed on from an unexplained change (spontaneous mutation) of a gene. Most babies with OI have a defect of one of two genes. These genes help in forming collagen.

How common is Oi?

OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. OI occurs with equal frequency among males and females and among racial and ethnic groups. Life expectancy varies depending on how severe the OI is, ranging from very brief (lethal form, OI type II) to average.

What is an OI baby?

Your child has been diagnosed with osteogenesis imperfecta (OI). This is a rare condition that causes bones to be very thin and delicate so they break (fracture) easily. OI is sometimes called brittle bone disease. There are four types of OI that range from mild to severe.

What is OI Type 3?

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

Does osteogenesis imperfecta get worse with age?

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.

What is the cause of OI?

What causes osteogenesis imperfecta (OI)? OI is caused by defects in or related to a protein called type 1 collagen (pronounced KOL-uh-juhn). Collagen is an essential building block of the body. The body uses type 1 collagen to make bones strong and to build tendons, ligaments, teeth, and the whites of the eyes.

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 wrong with Byron the Baxter boy?

When you listen to 3-year-old Byron Baxter laugh and talk, you’d never know anything was wrong with him. But he was born with a rare condition called osteogenesis imperfecta, or brittle bone disease.