Osteogenesis imperfecta

Osteogenesis imperfecta
Osteogenesis imperfecta
Classification and external resources

The classic blue sclerae of a person with osteogenesis imperfecta
ICD-10 Q78.0
ICD-9 756.51
DiseasesDB 9342
MedlinePlus 001573
eMedicine ped/1674
MeSH D010013

Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or "Lobstein syndrome"[1]) is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen.[2] This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. The larger amino acid side-chains create steric hindrance that creates a bulge in the collagen complex, which in turn influences both the molecular nanomechanics as well as the interaction between molecules, which are both compromised.[3] As a result, the body may respond by hydrolyzing the improper collagen structure. If the body does not destroy the improper collagen, the relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered, causing brittleness.[4] Another suggested disease mechanism is that the stress state within collagen fibrils is altered at the locations of mutations, where locally larger shear forces lead to rapid failure of fibrils even at moderate loads as the homogeneous stress state found in healthy collagen fibrils is lost.[3] These recent works suggest that OI must be understood as a multi-scale phenomenon, which involves mechanisms at the genetic, nano-, micro- and macro-level of tissues.

As a genetic disorder, OI has historically been viewed as an autosomal dominant disorder of type I collagen. In the past several years, there has been the identification of autosomal recessive forms.[citation needed] Most people with OI receive it from a parent but in 35% of cases it is an individual (de novo or "sporadic") mutation.[citation needed]



There are eight different types of OI, Type I being the most common, though the symptoms vary from person to person.

Type Description Gene OMIM
I mild [Null COL1A1 allele] 166240 (IA), 166200 (IB)
II severe and usually lethal in the perinatal period COL1A1, COL1A2, 166210 (IIA), 610854 (IIB)
III considered progressive and deforming COL1A1, COL1A2 259420
IV deforming, but with normal scleras COL1A1, COL1A2 166220
V shares the same clinical features of IV, but has unique histologic findings ("mesh-like") unknown 610967
VI shares the same clinical features of IV, but has unique histologic findings ("fish scale") unknown 610968
VII autosomal recessive, associated with cartilage associated protein CRTAP 610682
VIII severe to lethal, autosomal recessive, associated with the protein leprecan LEPRE1 610915

Type I

Blue sclera in osteogenesis imperfecta.

Collagen is of normal quality but is produced in insufficient quantities:

  • Bones fracture easily
  • Slight spinal curvature
  • Loose joints
  • Poor muscle tone
  • Discoloration of the sclera (whites of the eyes), usually giving them a blue-gray color. The blue-gray color of the sclera is due to the underlying choroidal veins which show through. This is due to the sclera being thinner than normal because of the defective Type I collagen not forming correctly.
  • Early loss of hearing in some children
  • Slight protrusion of the eyes

IA and IB are defined to be distinguished by the absence/presence of dentinogenesis imperfecta (characterized by opalescent teeth; absent in IA, present in IB). Life expectancy is slightly reduced compared to the general population due to the possibility of fatal bone fractures and complications related to OI Type I such as basilar invagination.[citation needed]

Type II

Collagen is not of a sufficient quality or quantity

  • Most cases die within the first year of life due to respiratory failure or intracerebral hemorrhage
  • Severe respiratory problems due to underdeveloped lungs
  • Severe bone deformity and small stature

Type II can be further subclassified into groups A, B, C, which are distinguished by radiographic evaluation of the long bones and ribs. Type IIA demonstrates broad and short long bones with broad and beaded ribs. Type IIB demonstrates broad and short long bones with thin ribs that have little or no beading. Type IIC demonstrates thin and longer long bones with thin and beaded ribs.

Type III

Collagen improperly formed. Enough collagen is made but it is defective

  • Bones fracture easily, sometimes even before birth
  • Bone deformity, often severe
  • Respiratory problems possible
  • Short stature, spinal curvature and sometimes barrel-shaped rib cage
  • Triangular face[5]
  • Loose joints
  • Poor muscle tone in arms and legs
  • Discolouration of the sclera (the 'whites' of the eyes), often turning blue during severe -break.
  • Early loss of hearing possible

Type III is distinguished among the other classifications as being the "Progressive Deforming" type, wherein a neonate presents with mild symptoms at birth and develops the aforementioned symptoms throughout life. Lifespan may be normal, albeit with severe physical handicapping.

Type IV

Collagen quantity is sufficient but is not of a high enough quality

  • Bones fracture easily, especially before puberty
  • Short stature, spinal curvature and barrel-shaped rib cage
  • Bone deformity is mild to moderate
  • Early loss of hearing

Similar to Type I, Type IV can be further subclassified into types IVA and IVB characterized by absence (IVA) or presence (IVB) of dentinogenesis imperfecta.

Type V

OI Type V in an Adult
OI Type V in a Child

Same clinical features as Type IV. Distinguished histologically by "mesh-like" bone appearance. Further characterized by the "V Triad" consisting of a) radio-opaque band adjacent to growth plates, b) hypertrophic calluses at fracture sites, and c) calcification of the radio-ulnar interosseous membrane.[6]

OI Type V leads to calcification of the membrane between the two forearm bones, making it difficult to turn the wrist. Another symptom is abnormally large amounts of repair tissue (hyperplasic callus) at the site of fractures. At the present time, the cause for Type V is unknown, though doctors have determined that it is inherited.

X-Ray OI Type V Adult X-Ray OI Type V Kid

More on Type V Research More on OI Study

Type VI

Same clinical features as Type IV. Distinguished histologically by "fish-scale" bone appearance.

Type VII

Mutations in the gene CRTAP causes this type.[7]


OI caused by mutation in the gene LEPRE1 is classified as type VIII.[7]


At present there is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility.

There have been many clinical trials performed with Fosamax (Alendronate), a drug used to treat those experiencing brittleness of bones due to osteoporosis. Higher levels of effectiveness apparently are to be seen in the pill form versus the IV form, but results seem inconclusive.[citation needed] The U.S. Food and Drug Administration (FDA) will not approve Fosamax as a treatment for OI because long term effects of the drug have not been fully researched yet, although it is often used in preteens, instead of Pamidronate.[citation needed]

Bone infections are treated as and when they occur with the appropriate antibiotics and antiseptics.


Physiotherapy used to strengthen muscles and improve motility in a gentle manner, while minimizing the risk of fracture. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure.

Children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children.

Physical aids

With adaptive equipment such as crutches, wheelchairs, splints, grabbing arms, and/or modifications to the home many individuals with OI can obtain a significant degree of autonomy.


Bisphosphonates (BPs), particularly those containing nitrogen, are being increasingly administered to increase bone mass and reduce the incidence of fracture. BPs can be dosed orally (e.g. alendronate) or by intravenous injection/infusion (e.g. pamidronate,[8] zoledronic acid).

BP therapy is being used increasingly for the treatment of OI. It has proven efficiency in reducing fracture rates in children,[9] however only a trend towards decreased fracture was seen in a small randomized study in adults.[10] While decreasing fracture rates, there is some concern that prolonged BP treatment may delay the healing of OI fractures, although this has not been conclusively demonstrated.

Pamidronate is used in USA, UK and Canada. Some hospitals, such as most Shriners, provide it to children. Some children are under a study of pamidronate. Marketed under the brand name Aredia, Pamidronate is usually administered as an intravenous infusion, lasting about three hours. The therapy is repeated every three to six months, and lasts for the life of the patient. Common side effects include bone pain, low calcium levels, nausea, and dizziness. According to recent results, extended periods of pamidrinate, (i.e.;6 years) can actually weaken bones, so patients are recommended to get bone densities every 6 months-1 year, to monitor bone strength.


Metal rods can be surgically inserted in the long bones to improve strength, a procedure developed by Harold A. Sofield, MD, at Shriners Hospitals for Children in Chicago. During the late 1940s, Sofield, Chief of Staff at Shriners Hospitals in Chicago, worked there with large numbers of children with OI and experimented with various methods to strengthen the bones in these children.[11] In 1959, with Edward A. Miller, MD, Sofield wrote a seminal article describing a solution that seemed radical at the time: the placement of stainless steel rods into the intramedullary canals of the long bones to stabilize and strengthen them. His treatment proved extremely useful in the rehabilitation and prevention of fractures; it was adopted throughout the world and still forms the basis for orthopedic treatment of OI.

Spinal fusion can be performed to correct scoliosis, although the inherent bone fragility makes this operation more complex in OI patients. Surgery for basilar impressions can be carried out if pressure being exerted on the spinal cord and brain stem is causing neurological problems.


The condition, or types of it, have had various other names over the years and in different nations. Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease. The name osteogenesis imperfecta dates to at least 1895[12] and has been the usual medical term in the 20th century to present. The current four type system began with Sillence in 1979.[13] An older system deemed less severe types "osteogenesis imperfecta tarda" while more severe forms were deemed "osteogenesis imperfecta congenita."[14] As this did not differentiate well, and all forms are congenital, this has since fallen out of favour.

The condition has been found in an Ancient Egyptian mummy from 1000 BC. The Norse king Ivar the Boneless may have had this condition as well. The earliest studies of it began in 1788 with the Swede Olof Jakob Ekman. He described the condition in his doctoral thesis and mentioned cases of it going back to 1678. In 1831, Edmund Axmann described it in himself and two brothers. Jean Lobstein dealt with it in adults in 1833. Willem Vrolik did work on the condition in the 1850s. The idea that the adult and newborn forms were the same came in 1897 with Martin Benno Schmidt.[15]


In the United States, the incidence of osteogenesis imperfecta is estimated to be 1 per 20,000 live births.[16][16]

Frequency is approximately the same across groups, but for unknown reasons the Shona and Ndebele of Zimbabwe seem to have a higher proportion of Type III to Type I than other groups.[17] However, a similar pattern was found in segments of the Nigerian and South African population. In these varied cases the total number of OIs of all four types was roughly the same as any other ethnicity.

Noted cases

Historical figures whose OI status is disputed

Society and culture

Figures in film, television, video games and novels depicted as having osteogenesis imperfecta include:

  • (1997-ongoing) Miles Vorkosigan, the hero of a science-fiction series by Lois McMaster Bujold, has a fictional non-genetic congenital disability which presents with symptoms very similar to that of the real-life condition, and the experience of which is central to his character.
  • (1998) British actor and writer Firdaus Kanga, who wrote and starred in the 1998 BBC film Sixth Happiness partially based on his own life. The film deals with growing up in a 1970's cosmopolitan Bombay Parsi family with this condition. Kanga wrote Trying to Grow exploring the life of adolescents with this condition. Kanga featured on Channel 4 documentaries 'Taboo' and 'Double the Trouble, Twice the Fun,' exploring religion, sexuality and disability.
  • (1999) The ER episode "Point of Origin" had a subplot featuring an anonymous child with the condition.[45]
  • (2000) The film Unbreakable features a character played by Samuel L. Jackson named Elijah Price who suffers from OI and is nicknamed "Mr. Glass" due to the brittleness of his bones.
  • (2001) Raymond Dufayel (sometimes simply called "the glass man" by his neighbors) in the French film Amélie; Dufayel is depicted as being confined to his house (the interior of which is heavily padded) by the condition.
  • (2004) A member of the Burns family, featured in one episode of the reality TV show Extreme Makeover: Home Edition, has the disease. They may have been selected, in part, due to the OIF.[46]
  • (2004) Nabil Shaban presented a documentary about the Viking king Ivar the Boneless, who may have suffered the same condition as Shaban himself
  • (2005) The novel "Forever Odd" written by Dean Koontz features a main character named Danny Makepeace, who has OI.
  • (2005) The movie Fragile features a child with this condition.
  • (2006) The fifth season of the series Scrubs saw Elliot Reid doing research into the various types of therapy available to O.I. patients. Her co-fellow Charlie then developed a new "gene therapy" cure, putting Elliot out of work.[47]
  • (2006) The TV show Bones found a body of a victim in a tub of lye. This occurred during season two, episode 5 "The Truth in the Lye." The main character, Dr. Temperance "Bones" Brennan, discovers the victim had O.I., probably type I or IV. The victim's children had O.I.[48]
    • In a 2009 episode of Bones titled A Night at the Bones Museum it is discovered that an ancient Egyptian had O.I. and so died of injuries from being thrown from a horse rather than being killed by his brother as long believed.
  • (2006) Episode 12, season 9, titled 'Wait and See' of the Australian medical soap All Saints featured a plot involving a difficult young man with 'brittle bone disease'.
  • (2007) On the TV show 30 Rock, season 1, Phoebe claims to have "avian bone syndrome."
  • (2007) Jeff "Joker" Moreau, pilot of the Systems Alliance spacecraft, the SSV Normandy in BioWare's Mass Effect game series, suffers from the condition which he calls by the informal name "Vrolik syndrome" (see History and alternative names above). In the first game, he notes that his condition is classed as being "moderate to severe" and that he is unable to walk without crutches or leg braces, but is seen walking without visible support (though with some difficulty and a hunched posture) during emergency in the second game due to fictional surgery he had to help his legs. He remarks that were he born a hundred years ago, he probably would not have made it past his first year.
  • (2009) Jodi Picoult wrote Handle with Care, a story about a little girl named Willow who has type III OI. The book shows how her disease has affected her life and the lives of those around her.
  • (2011) 9 year old Patrick Sharrock has a new house built for him and his family by Ty Pennington and the crew from Extreme Makeover: Home Edition

See also


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Look at other dictionaries:

  • osteogénesis imperfecta — f. anat. patol. Enfermedad congénita que se caracteriza por una coloración azul de las escleróticas y una excesiva fragilidad ósea que causa de fracturas múltiples. También se denomina enfermedad de Lobstein u osteopsatirosis. Medical Dictionary …   Diccionario médico

  • OSTEOGENESIS IMPERFECTA — (несовершенное костеобразование), редкое заболевание, впервые описанное Фроликом (Vrolik; 1849). Предлагавшиеся др. многочисленные названия этого заболевания: fragilitas ossium, osteopsathyrosis congenita (Klebs, Hoch singer и др.), malacia… …   Большая медицинская энциклопедия

  • Osteogénesis imperfecta — Clasificación y recursos externos CIE 10 Q 78 0 q 65 CIE 9 756.51 DiseasesDB …   Wikipedia Español

  • Osteogénesis imperfecta — es un grupo de enfermedades caractizados por fragilidad de hueso excesivo, por resulto de deficiencia congénito de la elaboración de fiebres de colágeno. * * * Grupo de enfermedades del tejido conectivo en que los huesos son muy frágiles. Varias… …   Enciclopedia Universal

  • osteogenesis imperfecta — ● osteogenesis imperfecta nom féminin Maladie de la trame conjonctive de l os, responsable d une véritable ostéoporose, se traduisant par des fractures spontanées et des malformations osseuses, souvent associée à une surdité et à une coloration… …   Encyclopédie Universelle

  • osteogenesis imperfecta — [äs΄tē ō jen′ə sis im΄pər fek′tə] n. a rare hereditary disorder of connective tissue, characterized by thin, brittle bones and progressive deafness …   English World dictionary

  • Osteogenesis imperfecta — Klassifikation nach ICD 10 Q78.0 Osteogenesis imperfecta …   Deutsch Wikipedia

  • Osteogenesis imperfecta — Brittle bone disease. Osteogenesis imperfecta (OI) is not one but a group of genetic diseases, all of which affect collagen in connective tissue in the body and all of which result in fragile bones. The best known types are types I and II. * * *… …   Medical dictionary

  • osteogenesis imperfecta — /im peuhr fek teuh/, Pathol. a rare hereditary disease in which abnormal connective tissue development leads to fragile bones subject to fracture. [1900 05; < NL: imperfect osteogenesis] * * * Group of connective tissue diseases in which the… …   Universalium

  • Osteogenesis imperfecta — Osteogẹnesis imperfẹcta   [lateinisch imperfectus »unvollendet«, »unvollkommen«] die, , Glasknochenkrankheit, genetisch bedingte Entwicklungsstörung der Knochen infolge einer mangelhaften Bildung von Knochenbälkchen (Hemmung der… …   Universal-Lexikon

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