What Is the Birth Defect Where Babies Bones Break Easily

Description

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly bear on the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, tin occur fifty-fifty before nativity. Milder cases may involve only a few fractures over a person'southward lifetime.

There are at least 19 recognized forms of osteogenesis imperfecta, designated blazon I through blazon 19. Several types are distinguished past their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (too known equally classic non-deforming osteogenesis imperfecta with blueish sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known every bit perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types 3 (progressively deforming osteogenesis imperfecta) and Iv (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.

The milder forms of osteogenesis imperfecta, including blazon I, are characterized by os fractures during childhood and adolescence that often consequence from small trauma, such every bit falling while learning to walk. Fractures occur less frequently in adulthood. People with balmy forms of the condition typically have a blue or grey tint to the function of the eye that is commonly white (the sclera), and nearly half develop hearing loss in adulthood. Different more severely affected individuals, people with type I are normally of normal or well-nigh normal height.

Other types of osteogenesis imperfecta are more than severe, causing frequent bone fractures that are present at nascency and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, brusque stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development chosen dentinogenesis imperfecta. Mobility can be reduced in afflicted individuals, and some may employ a walker or wheelchair. The most severe forms of osteogenesis imperfecta, peculiarly type Ii, tin 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.

Frequency

Osteogenesis imperfecta affects approximately 1 in ten,000 to twenty,000 people worldwide. An estimated 25,000 to 50,000 people in the U.s.a. have the status.

Causes

Osteogenesis imperfecta tin be acquired past mutations in i of several genes. Mutations in the COL1A1 and COL1A2 genes crusade approximately ninety pct of all cases. These genes provide instructions for making proteins that are used to assemble blazon I collagen. This type of collagen is the nigh arable protein in os, pare, and other connective tissues that provide structure and force to the body.

Osteogenesis imperfecta type I is caused by mutations in the COL1A1 gene or, less commonly, the COL1A2 factor. These genetic changes reduce the corporeality of type I collagen produced in the torso, though the molecules that are produced are normal. A reduction in type I collagen causes bones to exist brittle and to fracture easily. The mutations that crusade osteogenesis imperfecta types Ii, Three, and IV occur in either the COL1A1 or COL1A2 gene. These mutations typically alter the structure of type I collagen molecules, resulting in abnormal blazon I collagen. A defect in the structure of blazon I collagen weakens connective tissues, particularly bone, resulting in the characteristic features of these more severe types of osteogenesis imperfecta.

Mutations in other genes cause rare forms of osteogenesis imperfecta. Many of these genes provide instructions for proteins that help process type I collagen into its mature form. Mutations in these genes disrupt different steps in the product of collagen molecules. These changes weaken connective tissues, leading to severe bone abnormalities and problems with growth. Other genes involved in osteogenesis imperfecta provide instructions for making proteins that control the evolution and function of bone-forming cells. Mutations in these genes impair normal bone development, causing the bones to be brittle and to fracture easily.

Inheritance

When caused by mutations in the COL1A1 or COL1A2 factor, osteogenesis imperfecta has an autosomal dominant design of inheritance, which means one re-create of the altered gene in each cell is sufficient to cause the status. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most infants with more than severe forms of osteogenesis imperfecta (such as blazon II and type III) take no history of the condition in their family unit. In these infants, the condition is caused past new (sporadic) mutations in the COL1A1 or COL1A2 gene. Blazon V is also inherited in an autosomal dominant pattern.

Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance ways two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are non afflicted, but each carry one copy of the altered gene. Types Half-dozen through Xviii follow this design of inheritance.

Osteogenesis imperfecta type XIX is inherited in an X-linked recessive design. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, i of the ii sex activity chromosomes in each prison cell. In males, who take only one 10 chromosome, a mutation in the just copy of the gene in each cell is sufficient to cause the condition. In females (who have ii X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because information technology is unlikely that females will have two altered copies of this cistron, males are afflicted by 10-linked recessive disorders much more oftentimes than females. A characteristic of X-linked inheritance is that fathers cannot laissez passer X-linked traits to their sons.

Other Names for This Condition

• Brittle bone affliction
• Fragilitas ossium
• OI
• Vrolik disease

Boosted Data & Resource

Genetic Testing Information

• Genetic Testing Registry: Osteogenesis imperfecta
• Genetic Testing Registry: Osteogenesis imperfecta blazon 10
• Genetic Testing Registry: Osteogenesis imperfecta type 12
• Genetic Testing Registry: Osteogenesis imperfecta type 5
• Genetic Testing Registry: Osteogenesis imperfecta type 7
• Genetic Testing Registry: Osteogenesis imperfecta type viii
• Genetic Testing Registry: Osteogenesis imperfecta type ix
• Genetic Testing Registry: Osteogenesis imperfecta type I
• Genetic Testing Registry: Osteogenesis imperfecta blazon Three
• Genetic Testing Registry: Osteogenesis imperfecta with normal sclerae, dominant form
• Genetic Testing Registry: Osteogenesis imperfecta, type 18
• Genetic Testing Registry: Osteogenesis imperfecta, type 19
• Genetic Testing Registry: Osteogenesis imperfecta, type Half dozen
• Genetic Testing Registry: Osteogenesis imperfecta, type XI
• Genetic Testing Registry: Osteogenesis imperfecta, type xiii
• Genetic Testing Registry: Osteogenesis imperfecta, type xiv
• Genetic Testing Registry: Osteogenesis imperfecta, blazon xv
• Genetic Testing Registry: Osteogenesis imperfecta, type xvi
• Genetic Testing Registry: Osteogenesis imperfecta, blazon xvii

Genetic and Rare Diseases Information Center

Research Studies from ClinicalTrials.gov

• ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

• OSTEOGENESIS IMPERFECTA, TYPE I
• OSTEOGENESIS IMPERFECTA, TYPE II
• OSTEOGENESIS IMPERFECTA, TYPE III
• OSTEOGENESIS IMPERFECTA, TYPE Iv
• OSTEOGENESIS IMPERFECTA, TYPE IX
• OSTEOGENESIS IMPERFECTA, TYPE 5
• OSTEOGENESIS IMPERFECTA, Blazon Vi
• OSTEOGENESIS IMPERFECTA, Blazon 7
• OSTEOGENESIS IMPERFECTA, TYPE VIII
• OSTEOGENESIS IMPERFECTA, Type X
• OSTEOGENESIS IMPERFECTA, TYPE 11
• OSTEOGENESIS IMPERFECTA, Blazon XII
• OSTEOGENESIS IMPERFECTA, TYPE Xiii
• OSTEOGENESIS IMPERFECTA, TYPE Xiv
• OSTEOGENESIS IMPERFECTA, TYPE 19
• OSTEOGENESIS IMPERFECTA, Type XV
• OSTEOGENESIS IMPERFECTA, TYPE XVI
• OSTEOGENESIS IMPERFECTA, Blazon XVII
• OSTEOGENESIS IMPERFECTA, Type Eighteen

Scientific Articles on PubMed

• PubMed

References

• Byers PH, Pyott SM. Recessively inherited forms of osteogenesis imperfecta. Annu Rev Genet. 2012;46:475-97. doi: 10.1146/annurev-genet-110711-155608. Review. Commendation on PubMed
• Kang H, Aryal A C Due south, Marini JC. Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia. Transl Res. 2017 Mar;181:27-48. doi: x.1016/j.trsl.2016.11.005. Epub 2016 Nov nineteen. Review. Commendation on PubMed
• Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of Osteogenesis Imperfecta. Os. 2017 Sep;102:40-49. doi: x.1016/j.bone.2017.02.004. Epub 2017 Feb 15. Review. Commendation on PubMed or Free article on PubMed Cardinal
• Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit Yard, Semler O. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017 Aug 18;iii:17052. doi: 10.1038/nrdp.2017.52. Review. Citation on PubMed
• Steiner RD, Basel D. COL1A1/2 Osteogenesis Imperfecta. 2005 Jan 28 [updated 2021 May vi]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Cyberspace]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from http://www.ncbi.nlm.nih.gov/books/NBK1295/ Citation on PubMed
• Tournis S, Dede Advert. Osteogenesis imperfecta - A clinical update. Metabolism. 2018 Mar;80:27-37. doi: x.1016/j.metabol.2017.06.001. Epub 2017 Jun 8. Review. Citation on PubMed

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Source: https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta/

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