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Genetic and Rare Diseases Information Center (GARD)

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Osteogenesis imperfecta

Other Names for this Disease
  • Brittle bone disease
  • Fragilitas ossium
  • OI
  • Vrolik disease
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What is osteogenesis imperfecta?

How is osteogenesis imperfecta inherited?

Is genetic testing available for osteogenesis imperfecta?

What is osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, as well as by genetic factors.[1] Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern.
Last updated: 10/3/2011

How is osteogenesis imperfecta inherited?

Most types of osteogenesis imperfecta (OI) have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. The altered copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected individual. Each child of an individual with a dominantly inherited form of OI has a 50% (1 in 2) chance of inheriting the mutation.[2] The child would have the same OI-causing mutation as the parent, although the child’s symptoms may be milder or more severe than the parent’s symptoms.[3] Many people with type I or type IV OI inherit a mutation from a parent who has the disorder, while most infants with more severe forms (such as type II and type III) have no history of the condition in their family and have a new (sporadic) mutation that occurred for the first time in their cells.[1]

Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation.[2] Some cases of osteogenesis imperfecta type III are autosomal recessive, as well as some other types of OI that are caused by mutations in the CRTAP or LEPRE1 genes.[1]

It is recommended that couples at risk of having a child with OI seek genetic counseling before conception, or as early in the pregnancy as possible. A genetic counselor can provide information on OI genetics and prenatal diagnosis.[3] Instructions for locating a genetics professional are provided in the Services tab of the home page for this topic.

Last updated: 10/5/2011

Is genetic testing available for osteogenesis imperfecta?

Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type.[4] Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known.

Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative.[4]

GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members.
Last updated: 4/5/2012

  1. Osteogenesis imperfecta. Genetics Home Reference (GHR). 2007; Accessed 11/11/2011.
  2. Steiner RD, Pepin MG, Byers PH. Osteogenesis Imperfecta. GeneReviews. 2005; Accessed 4/29/2009.
  3. Krakow D. OI Issues: Pregnancy Considerations for women with OI. Osteogenesis Imperfecta Foundation. 2007; Accessed 4/29/2009.
  4. Robert D Steiner, Melanie G Pepin, Peter H Byers. Osteogenesis Imperfecta. GeneReviews. January 28, 2005; Accessed 10/5/2011.