How long can you live with osteogenesis imperfecta?
How long can you live with osteogenesis imperfecta?
Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years).
What are the stages of osteogenesis imperfecta?
The OI types are as follows:
- Type I. Mildest and most common type.
- Type II. Most severe type.
- Type III. Most severe type in babies who don’t die as newborns.
- Type IV. Symptoms are between mild and severe.
- Type V. Similar to type IV.
- Type VI. Very rare.
- Type VII. May be like type IV or type II.
- Type VIII.
What causes OI type 4?
OI type IV is caused by changes ( mutations ) in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner. There is currently no cure for OI type IV. Treatment is supportive and based on the signs and symptoms present in each person.
What is the prognosis for brittle bone disease?
Brittle bone disease has no cure. The prognosis for infants with the most severe form of osteogenesis imperfecta is poor, and most children may not live beyond a few weeks.
Is osteogenesis imperfecta life threatening?
The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.
What is the outcome of osteogenesis imperfecta?
Osteogenesis imperfecta (OI) is a genetic or heritable disease in which bones fracture (break) easily, often with no obvious cause or injury. OI is also known as brittle bone disease, and the symptoms can range from mild with only a few fractures to severe with many medical complications.
Is Osteogenesis Imperfecta a disability?
A child who has been diagnosed with Osteogenesis Imperfecta (OI) Type II will qualify for disability, since OI Type II is listed as one of the conditions that qualify for a compassionate allowance.
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.
Is Osteogenesis Imperfecta fatal?
Type 2 OI is often fatal. A child with type 2 OI may die in the womb or shortly after birth from respiratory problems.
What is the prognosis for achondroplasia?
Survival. Most of those with achondroplasia will have a normal or near normal life expectancy. However, there is an increased risk for premature death [107,108,109] related not only to sudden unexpected deaths in infancy (see below) but also, it appears, to cardiovascular complications in mid-adult life [108].
What are the symptoms of osteogenesis imperfecta type IV?
Although signs and symptoms can vary, affected people may experience easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye). [1] [2] [3] OI type IV is caused by changes ( mutations) in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner.
How is osteogenesis imperfecta ( OI ) inherited?
Is Osteogenesis imperfecta inherited? Most types of OI are inherited in an autosomal dominant pattern. Almost all infants with the severe type II OI are born into families without a family history of the condition. Usually, the cause in these families is a new mutation in the egg or sperm or very early embryo in the COL1A1 or COL1A2 gene.
Is there a cure for mild osteogenesis imperfecta?
Growth hormone (GH) therapy has proven beneficial in individuals with mild or moderate forms of OI. GH has helped improve collagen production and increased growth and bone mineral density. More research is necessary to determine the long-term safety and effectiveness of this treatment for individuals with OI.
What happens to collagen production in osteogenesis imperfecta?
In dominant (classical) OI, a person has either too little type 1 collagen or a poor quality of type 1 collagen caused by a mutation in one of the type 1 collagen genes. In recessive OI, mutations in other genes interfere with collagen production. The result in all cases is weak bones that break easily.
