Osteogenesis Imperfecta - NORD (National Organization for Rare Disorders) (2023)

Osteogenesis Imperfecta

NORD gratefully acknowledges Maureen Maciel, MD, Chief of Staff, Shriners Healthcare for Children, Florida; Affiliate Assistant Professor, Department of Orthopaedic Surgery and Sports Medicine, University of South Florida,for assistance in the preparation of this report.

Synonyms of Osteogenesis Imperfecta

  • brittle bone disease
  • brittle bone dysplasia
  • OI

Subdivisions of Osteogenesis Imperfecta

  • collagen type OI
  • non-collagen type OI

General Discussion

Osteogenesis imperfecta (OI) is a rare disease affecting the connective tissue and is characterized by extremely fragile bones that break or fracture easily (brittle bones). The abnormal growth of bones is often referred to as a bone dysplasia. The specific symptoms and physical findings associated with OI vary greatly from person to person. The severity of OI also varies greatly, even among individuals in the same family. OI may be a mild disorder or result in severe complications.

Four main types of OI (the collagen types) have been identified based on clinical features and severity. These types account for 85-90 percent of OI cases and are caused by mutations (changes) in the COL1A1 or COL1A2 genes. These genes code for type 1 collagen, the most abundant collagen in the human body. It is found in bones, tendons and ligaments. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe of the collagen types. OI types V through XXI (the non-collagen types), as well as unclassified types, make up the remaining 10-15 percent of OI cases. These types are caused by changes in genes that code for proteins that interact with collagen.

Signs & Symptoms

In all types of osteogenesis imperfecta, symptoms vary greatly from one individual to the next, even within the same type and the same family. Some affected individuals may not experience any bone fractures or only a few. Other affected individuals experience multiple fractures. The age of onset of fractures varies from person to person. OI is a collagen related disease, and as such, the arrangement and integrity of teeth (dentition), lung function, heart (cardiac) function, muscle strength and ligament flexibility may be affected as well.

Historically, OI has been classified into four main types according to clinical features and severity. Over the past decade, many new genes have been identified in individuals who have brittle bones as a component of their disease. The classification has been expanded beyond types I through IV to include these new and rarer types of OI. Types V through XXI are classified according to the causative genetic mutation. Just like the more common types of OI, the clinical features of affected individuals vary within these rare types. The types of OI and the causative gene (shown in parentheses) are described below.

Osteogenesis Type I (COL1A1)

Osteogenesis type I is the most common and usually the mildest form of OI. In most people, it is characterized by multiple bone fractures, usually occurring during childhood through puberty. A child with type I OI may fracture early in life with minimal trauma (falling from a standing position or when being pulled up by a caregiver), whereas others may fracture later on when participating in higher intensity physical activity. Fractures during the newborn (neonatal) period are rare. The frequency of fractures usually declines after puberty. Repeated fractures may result in slight malformation of the bones of the arms and legs (e.g., bowing of the tibia and femur).

A distinguishing feature associated with OI type I is a bluish discoloration of the whites of the eyes (blue sclera). Some individuals with OI type I may develop abnormalities affecting the middle and/or inner ears, contributing to, or resulting in hearing impairment. The incidence of hearing loss in patients with type I OI increases with age.

Individuals with OI type I may have a triangular facial appearance. Height is variable and most people are below average height for age in childhood, with an adult height shorter than that of unaffected family members. Between 10 and 40 percent of patients with OI type I develop a curved spine (scoliosis). The curve is often mild and progresses minimally over time.

Additional symptoms associated with OI type I include loose (hyper extensible) joints and low muscle tone (hypotonia). This may result in a predisposition to joint dislocations and ligament sprains. Some patients have skin that bruises easily. Brittle teeth (dentinogenesis) are uncommon in type I OI.

Osteogenesis Type II (COL1A1 or COL1A2)

OI type II is the most severe type of osteogenesis imperfecta. Affected infants often experience life-threatening complications at birth or shortly after. Infants with OI type II have low birth weight, abnormally short arms and legs and blue sclera. In addition, affected infants have extremely fragile bones and numerous fractures present at birth. The ribs and long bones of the legs are often malformed.

Infants with OI type II have underdeveloped lungs and an abnormally small upper chest (thorax) that may result in life-threatening respiratory insufficiency. Some affected infants may experience congestive heart failure.

Infants with OI type II may also have a small, narrow nose, small jaw (micrognathia) and abnormally large soft spots on the top of the skull (large fontanelle). Affected infants may also have thin, fragile skin and low muscle tone (hypotonia).

Osteogenesis Type III (COL1A1 or COL1A2)

Extremely fragile malformed bones and multiple fractures characterize OI type III. Fractures are often present at birth and x-rays may show signs of healing fractures that occurred prenatally.

Progressive malformations of various bones commonly result in short stature, spinal deformity (scoliosis, thoracic kyphosis and lumbar lordosis) and malformation of the junction where the bone in the back of the skull (occipital bone) and the top of the spine meet (basilar invagination). Approximately 70 percent of children with type III OI develop scoliosis. These curves have a high risk of progression during skeletal growth. Chest wall deformities are common, resulting in a barrel shaped rib cage. Frequent fractures and bone deformities of the upper and lower extremities may require multiple surgeries for stabilization as the child grows. Adult height is severely reduced. Individuals with type III OI may become more dependent on the use wheelchairs and other mobility aids by young adulthood.

Infants with OI type III may have a slight blue discoloration to the whites of the eyes at birth. In most patients, the bluish tinge fades during the first year of life. Affected infants often have a triangular facial appearance due to an abnormally prominent forehead (frontal bossing) and a small jaw (micrognathia). Hearing loss may develop during the first decade. Dentinogenesis imperfecta may also be present. Type III patients may develop pulmonary problems secondary to abnormal lung tissue and chest wall abnormalities.

Osteogenesis Type IV (COL1A1 or COL1A2)

The clinical severity of type IV OI (the moderate type) may resemble type I or type III. Fractures are more common before puberty. Affected individuals experience mild to moderate bone malformation and are usually shorter than average. Patients with type IV OI may also develop scoliosis.

Individuals with OI type IV may have a triangular facial appearance. In most patients, the sclera are normal or pale blue during infancy. As an infant ages, the pale blue discoloration of the sclera fades. Affected individuals may also experience hearing impairment and dentinogenesis imperfecta.

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Osteogenesis Type V (IFITM5)

OI type V is moderate in severity, with a clinical picture similar to type IV. Individuals may develop an abundance of healing bone (hypertrophic callus) at fracture sites or where bones have been cut surgically. They may also have an abnormal bony connection between the two long bones of the forearm resulting in limitations of motion at the wrist and elbow.

Osteogenesis Type VI (SERPINF1)

Type VI OI is moderate in severity and affected individuals have a clinical picture similar to type IV. Children who have type OI type VI do not have fractures at birth, but develop them later. Vertebral compression fractures and scoliosis are common, as is progressive bowing of the bones in the arms and legs. Height is moderate to severely affected. The sclera of the eyes are white, teeth are normal and hearing loss has not been observed.

Osteogenesis Imperfecta Type VII (CRTAP)

Type VII OI is severe and affected individuals have clinical cases similar to type II.

Osteogenesis Imperfecta Type VIII (LEPREI)

Affected individuals have white sclera, severe growth deficiency and a clinical course similar to types either II or III.

Osteogenesis Imperfecta Type IX (PPIB)

Type IX OI is very rare and affected individuals have white sclera, proportionate limbs and moderate to severe clinical cases.

Osteogenesis Imperfecta Type X (SERPINH1)

Type X OI is extraordinarily rare and the bones are severely affected. Individuals with type X OI have a head that appears large for body size and blue sclera. Pulmonary complications, renal stones and muscle weakness have been reported.

Osteogenesis Imperfecta Type XI (FKBP10)

Type XI OI encompasses a spectrum of disorders that include variable severities of both brittle bones and abnormalities in joint mobility. Progressive scoliosis and kyphosis, abnormal hips and normal hearing are common features. Bruck syndrome type I is also caused by mutations in the FKBP10 gene and is characterized by severe OI and joint contractures (limited mobility).

Osteogenesis Imperfecta Type XII (BMP1)

Type XII OI includes several disorders that are characterized by recurrent fractures, poor bone density, muscle weakness, delayed tooth eruption, progressive hearing loss and white sclera. Bone density may be above normal.

Osteogenesis Imperfecta Type XIII (SP7)

Affected individuals have bone density just at or below normal and develop mild to moderate bone deformities. They have a small lower jaw, normal teeth, faint blue sclera and growth deficiency.

Osteogenesis Imperfecta Type XIV (TMEM38B)

The severity of symptoms in affected individuals varies widely. Some individuals have bowing of the bones in the legs and recurrent fractures, whereas others are asymptomatic. Muscle weakness and heart abnormalities have been reported in patients with type XIV OI.

Osteogenesis Imperfecta Type XV (WNT1)

Affected individuals have moderate to severe bowing of the long bones, scoliosis, vertebral fractures and muscle weakness. Some have blueish sclera and neurological problems have been reported.

Osteogenesis Imperfecta Type XVI (CREB3L1)

OI type XVI is severe. Fractures are present at the time of birth and the long bones of the upper arms and legs develop bowing.

Osteogenesis Imperfecta Type XVII (SPARC)

Type XVII is severe. Affected individuals have white sclera, no dental involvement, joint hypermobility and may develop scoliosis

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Osteogenesis Imperfecta Type XVIII (FAM46A)

OI Type XVIII causes severe bony abnormalities, scoliosis, chest wall deformity and the sclera may be blue or white.

OI Type XIX (MBTPS2)

Type XIX OI is a severe type caused by a mutation on the X chromosome. It is characterized by prenatal fractures, growth deficiency, scoliosis and severe angulation of the lower leg bone (tibia).

OI Type XX (MESD)

OI type XX is severe. Features include fractures, severe bowing deformities of the long bones, and possible respiratory failure.

OI Type XXI (KDELR2)

Type XXI OI is moderate to severe and results in progressive bone deformities and multiple fractures. Growth deficiency and scoliosis are also reported.

Causes

Osteogenesis Imperfecta types I through IV are caused by mutations in the COL1A1 or COL1A2 genes. These genes carry instructions for the production of type 1 collagen. Collagen is the major protein of bone and connective tissue including the skin, tendons and sclera. The collagen protein is made up of three strands of proteins (two alpha 1 strands and one alpha 2 strand) that wind together in a helical fashion. These helical molecules then pack side by side to form characteristic bands that are linked together. This structure gives collagen enormous tensile strength. When a mutation occurs, the collagen that the mutated gene produces may be faulty or insufficient. In type I, the gene mutation results in a normal collagen protein, but only one-half of the normal amount is produced. Types II through IV are the result of mutations that affect the structure of the collagen protein. The precise location and type of mutation determines the severity of the resulting disease. The non-collagen types of OI (types V-XXI) are caused by mutations in genes that code for other proteins that play a pivotal role in the production of normal collagen.

Over 80 percent of the mutations that cause osteogenesis imperfecta are inherited in an autosomal dominant pattern. That means that an affected individual has only one copy of the mutated gene. The mutated gene dominates the normal gene such that the affected individual forms only abnormal collagen (as in types II-V) or only makes half the normal amount of collagen (as in type I). Autosomal dominant mutations can be passed down from parent to child. This autosomal dominant transmission accounts for about 60 percent of new diagnoses of OI cases each year. In another 20-30 percent of new cases annually, OI is caused by a spontaneous autosomal dominant mutation in the affected individual. This new dominant mutation can then be passed down to future generations. The risk of transmitting the autosomal dominant disorder from affected parent to offspring is 50 percent for each pregnancy and the risk is the same for males and females.

The rarer types of OI (except for type V and some type XVI) are recessive types that only occur when an individual has two copies of the mutated gene, one from each parent. If an individual receives one normal gene and one mutated gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the mutated gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

Affected Populations

Osteogenesis imperfecta affects males and females in equal numbers. The incidence of cases recognizable at birth is 1:10-20,000. More mild types that are only recognized later in life occur at about the same incidence. It is estimated that 20,000 to 50,000 individuals in the United States have OI.

Related Disorders

Symptoms of the following disorders can be similar to those of osteogenesis imperfecta. Comparisons may be useful for a differential diagnosis:

Achondroplasia is a skeletal dysplasia characterized by short stature, abnormally short arms and legs (short-limbed dwarfism), abnormal facial features and skeletal malformations. Characteristic facial features may include an abnormally large head (macrocephaly), unusual prominence of the forehead (frontal bossing), a low nasal bridge and underdevelopment of the middle portion of the face (midface hypoplasia). Skeletal malformations may include unusually short fingers and toes (brachydactyly), an increased concave curvature of the lower spine (lordosis), legs that bow outward (genu varum) and/or narrowing (stenosis) of the spine. Additional abnormalities may include limited extension of the elbows and hips, diminished muscle tone (hypotonia) and/or frequent infections of the middle ear (otitis media). Achondroplasia is caused by a mutation in the FGFR3 gene. Eighty percent of cases are sporadic, and it is inherited in an autosomal dominant manner. (For more information on this disorder, choose “achondroplasia” as your search term in the Rare Disease Database.)

Hypophosphatasia is a rare disorder characterized by defective bone hardening (mineralization) resulting in weakened bones. Symptoms vary widely across the six major clinical forms. Repeated fractures, bowing of the long bones of the arms and legs, and rib and chest wall deformities are some symptoms and features that may present. Hypophosphatasia is caused by mutations in the ALPL gene and can be inherited in an autosomal recessive or an autosomal dominant manner. (For more information on this disorder, choose “hypophosphatasia” as your search term in the Rare Disease Database.)

Pyknodysostosis is a rare disorder characterized by increased density of bones (osteosclerosis) and fractures. Affected individuals may have short stature, an abnormally prominent forehead, underdeveloped lower jaw, dental abnormalities and fragile bones that are prone to stress fractures. Pyknodysostosis is caused by a mutation in the CTSK gene and is inherited in an autosomal recessive manner. (For more information on this disorder, choose “pyknodysostosis” as your search term in the Rare Disease Database.)

Osteopetrosis is a rare disorder marked by increased bone density, brittle bones and, in some patients, skeletal abnormalities. There are three types, with the adult type (the milder type) and the intermediate type presenting with abnormalities of bone and frequent fractures. Osteopetrosis is caused by an abnormality in bone resorption. (For more information on this disorder, choose “osteopetrosis” as your search term in the Rare Disease Database.)

Diagnosis

A diagnosis of osteogenesis imperfecta is made based upon a detailed patient and family history and a thorough clinical evaluation to identify characteristic signs and symptoms. Genetic testing is performed to detect the known genetic mutations that cause OI.

In some patients, the diagnosis of OI is made before birth (prenatally), based upon specialized tests such as ultrasound, amniocentesis and/or chorionic villus sampling (CVS). Ultrasound studies may reveal characteristic findings such as fractures and/or bowing of the long bones in the moderate to severe cases. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and studied. During chorionic villus sampling, a tissue sample is removed from a portion of the placenta. Genetic testing performed on this fluid or tissue sample may reveal a genetic mutation that causes OI.

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Standard Therapies

Treatment

The treatment of OI is directed toward the specific symptoms that are apparent in each individual. Treatment is aimed at preventing symptoms, maintaining individual mobility, and strengthening bone and muscle. Attention to nutrition and overall physical and psychological well-being is also very important.

Exercise and physical therapy programs have proven beneficial in strengthening muscles, increasing weight-bearing capacity and reducing the tendency to fracture. Physical therapy in the water (hydrotherapy) has proven helpful since moving around in water lessens the chance of fracture. Individuals with OI should consult with their physicians and physical therapists to determine a safe and appropriate exercise program.

Bisphosphonate therapy (intravenous infusions with either pamidronate or zolendronate) is commonly used to treat children with OI who have frequent fractures, spinal compression fractures, bone pain and decreased bone density measured by DEXA scan. Bisphosphonates work by slowing down the resorption of existing bone while new bone is being formed. This allows bone mass and strength to increase. It does not, however, make the new bone normal. Adults with OI may be treated with oral or intravenous bisphosphonates. Other drugs used to treat osteoporosis may be used in adult patients with OI to prevent loss of bone mass. Denosumab decreases bone resorption and teriparatide has been shown to increase bone strength. The decision to initiate or alter drug therapy is dependent on multiple clinical factors and should be pursued under the direction of an experienced physician.

A surgical procedure in which metal rods are placed into the long bones of the upper and lower extremities (rodding) is used to treat some individuals with OI. This surgery may be necessary in patients where there is progressive deformity of a bone or if a bone fractures repeatedly. Rodding of the forearms is typically reserved for patients where deformities significantly impair function. The timing of surgery, type of rod used (expandable or non-expandable) and the aftercare is very individual and should be discussed thoroughly between the surgeon and parents or adult with OI.

Surgery to relieve compression between the base of the skull and the top of the spine (basilar invagination) may prove necessary in severe symptomatic patients. Specialized dental and orthodontic procedures may be necessary to correct abnormalities of the teeth and jaw.

Monitoring

Individuals with OI should undergo routine screenings to detect hearing loss. Regular dental care is also important. A consultation with an orthodontist should be obtained before age seven to assess jaw development and alignment. Pulmonary function should be measured using pulmonary function tests (PFTs) at approximately age 5 and then between ages 20 and 25. If normal, it should be repeated bi-annually. A baseline echocardiogram should be obtained in the late teens or early adulthood. Clinical evaluations for basilar invagination should be performed regularly and at least one lateral radiograph of the junction of the skull and the cervical spine obtained as a baseline. Serial screening for scoliosis should also be performed. If it is detected, regular x-rays may be necessary to monitor for curve progression.

Investigational Therapies

Information on current clinical trials is posted on the Internet atwww.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email:[emailprotected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/news-patient-recruitment/

For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

Resources

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

NORD Member Organizations

  • Osteogenesis Imperfecta Foundation
    • 804 W. Diamond Ave, Suite 210
    • Gaithersburg, MD 20878 USA
    • Phone: (301) 947-0083
    • Toll-free: (800) 981-2663
    • Email: [emailprotected]
    • Website: http://www.oif.org

Other Organizations

  • Canadian Osteogenesis Imperfecta Society
    • PO Box 38189 Castlewood
    • 550 Eglington Ave W
    • Toronto, Ontario MSN 1B0 Canada
    • Toll-free: (844) 889-7579
    • Email: [emailprotected]
    • Website: http://www.oif.org/cois
  • Children’s Brittle Bone Foundation
    • 7701 95th Street
    • Pleasant Prairie, WI 53158
    • Phone: (866) 694-2223
    • Email: [emailprotected]
    • Website: http://www.cbbf.org
  • European Skeletal Dysplasia Network
    • Institute of Genetic Medicine
    • Newcastle University
    • Newcastle upon Tyne, NE1 3BZ United Kingdom
    • Phone: 441612755642
    • Email: [emailprotected]
    • Website: http://www.esdn.org
  • Genetic and Rare Diseases (GARD) Information Center
  • Let Them Hear Foundation
    • 1900 University Avenue, Suite 101
    • East Palo Alto, CA 94303
    • Phone: (650) 462-3174
    • Email: [emailprotected]
    • Website: http://www.letthemhear.org
  • NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    • Information Clearinghouse
    • One AMS Circle
    • Bethesda, MD 20892-3675 USA
    • Phone: (301) 495-4484
    • Toll-free: (877) 226-4267
    • Email: [emailprotected]
    • Website: http://www.niams.nih.gov/
  • NIH/National Institute of Child Health and Human Development
    • 31 Center Dr
    • Building 31, Room 2A32
    • Bethesda, MD 20892
    • Toll-free: (800) 370-2943
    • Email: [emailprotected]
    • Website: http://www.nichd.nih.gov/

References

TEXTBOOKS

The Skeletal Dysplasias. Chapter 7 In: Lovell and Winter’s Pediatric Orthopaedics. Seventh ed. Weinstein SL, Flynn JM eds. 2014 Lippincott Williams and Wilkins, Philadelphia, PA

JOURNAL ARTICLES

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Doyard M, Bacrot S, Huber C, et al. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.J Med Genet. 2018; 55: 278-284.

Keller RB, Tran TT, Pyott SM, et al. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.Genet Med. 2018;20: 411-419.

Mendoza-Londono R, Fahiminiya S, Majewski J. Care4Rare Canada Consortium, et al.Recessive osteogenesis imperfecta caused by missense mutations in SPARC.Am. J Hum Genet. 2015;96: 979-985.

Apronen H, Makitie O, Waltimo-Siren J. Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric osteogenesis imperfecta patients: a retrospective cross-sectional study. BMC Musculoskelet Disord. 2014 Dec 13;15:428.

Marnini JC, Reich A, Smith SM. Osteogenesis Imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr. 2014; 26:500-507.

Anissipour AK, Hammerberg KW, Caudill A, et al. Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am. 2014;96:237-43

Keupp K, Beleggia F, Kayserili H, et al. Mutations in WNT1 cause different forms of bone fragility.Am J Hum Genet. 2013; 92: 565-574.

Volodarsky M, Markus B, Cohen I, et al. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.Hum Mutat. 2013;34: 582-586.

Martinez-Glez V, Valencia M, Caparros-Martin JA, et al. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat. 2012;33: 343-350.

Marini JC et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. NEJM. 2006;26.

Antoniazzi F, et al. Osteogenesis imperfecta: practical treatment guidelines. Paediatr Drugs. 2000;2:465-88.

Byers PH. Osteogenesis imperfecta: perspectives and opportunities. Curr Opin Pediatr. 2000;12:603-09.

Glorieux FH. Bisphosphonate therapy for severe osteogenesis imperfecta. J Pediatr Endocrinol Metab. 2000;13:989-92.

Glorieux FH, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15:1650-58.

Kuurila K, et al. Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr. 2000;159:515-19.

Glorieux FH, et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med.1998;339:947-52.

Pruchno CJ, et al. Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. Hum Genet. 1991;87:33-40.

Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta.J Med Genet. 1979;16:101-116.

INTERNET

Marini JC, Dang AN. Osteogenesis Imperfecta. Endotext. Updated July 26, 2020. Available at: https://www.ncbi.nlm.nih.gov/books/NBK279109/. Accessed July 14, 2021.

Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University. Hammosh A, editor. Entry No:259440; Last Update:8/2/2018. Entry No:301014; Last Update:8/2/2018. Entry No:618644; Last Update:1/22/2020. Entry No:619131; Last Update:5/25/2021. Available at https://www.omim.org/ Accessed July 13, 2021.

Years Published

1984, 1985, 1986, 1987, 1988, 1990, 1992, 1996, 1997, 1999, 2001, 2003, 2007, 2021

The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.

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FAQs

Do people with OI have teeth? ›

About half of the people who have OI have teeth that appear normal, and their major concerns are routine care. However, the other half has a defect in the teeth called Dentinogenesis Imperfecta (DI), sometimes referred to as opalescent teeth or brittle teeth.

Can people with OI have children? ›

OI does not affect fertility. However, about one-half of women with OI give birth by cesarean section. This is because they often have pelvic bone abnormalities that prevent vaginal birth. Women with OI also are more likely to have infants who present in the breech position (feet first).

How many people are born with OI? ›

Frequency. 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.

What is the most severe type of OI? ›

OI type II is the most severe type of osteogenesis imperfecta. Affected infants often experience life-threatening complications at birth or shortly after. Infants with OI type II have low birth weight, abnormally short arms and legs and blue sclera.

Does osteogenesis imperfecta affect the brain? ›

Abstract. Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by disruption of normal collagen formation resulting in varying degrees of skeletal vulnerability, ligamentous laxity, and scleral discoloration. Children with OI may suffer from complex neurosurgical problems affecting the brain and spine.

How long does someone with osteogenesis imperfecta live? ›

The median survival time for females with OI was 77.4 years (95% CI, 74.6 to 79.8) versus 84.5 years (95% CI, 83.0 to 86.2) in the reference population (p < 0.001).
...
Results.
Osteogenesis imperfectaReference population
Age 55–75205010985
Age >752292033
Median survival time (years)
10 more rows
27 Jun 2016

Can people with OI walk? ›

People with OI also have variable mobility, ranging from independent walking to full-time wheelchair use. MYTH: People who have OI cannot have children.

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.

Can osteogenesis imperfecta be cured? ›

There's no cure for osteogenesis imperfecta. But a care team can help kids with problems related to the condition. If your child has brittle bone disease, the care team can include: a primary care provider (for routine health care)

Do any famous people have osteogenesis imperfecta? ›

Actors. Jack Binstead – British actor known for a role in the British sitcom Bad Education. Julie Fernandez – British actress best known for her role in the British The Office. Rick Howland – Canadian actor who is known for playing Trick on Lost Girl.

Who is at risk for OI? ›

Who Gets Osteogenesis Imperfecta? Though anyone can be born with OI, people with a family history of the disease are at greater risk of inheriting the disease through an abnormal gene that is passed on from one or both parents. Genetic counselors can help you better understand the genetics of OI.

What organs are affected by osteogenesis imperfecta? ›

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.

How is OI 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.

How do people get osteogenesis imperfecta? ›

Osteogenesis imperfecta (OI) occurs because of a gene mutation (change). This mutation may be sporadic (random) or a baby may inherit the gene from one or both parents. Some parents are carriers for the gene that causes OI. Being a carrier means you don't have the disease yourself but can pass it down to your child.

At what age is osteogenesis imperfecta diagnosed? ›

How do healthcare providers diagnose osteogenesis imperfecta (OI)? If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy. If a parent or sibling has OI, a healthcare provider can test the DNA of the fetus for the presence of an OI mutation.

Does osteogenesis imperfecta qualify for disability? ›

OI type II qualifies you for social security disability benefits under the Social Security Administration's guidelines. If you or a loved one has been diagnosed with OI type II, then you are considered disabled for at least 24 months from the date of diagnosis.

What are the 2 types of osteogenesis? ›

Static and dynamic osteogenesis: two different types of bone formation.

What are the 3 major bone diseases? ›

Different kinds of bone problems include: Low bone density and osteoporosis, which make your bones weak and more likely to break. Osteogenesis imperfecta makes your bones brittle. Paget's disease of bone makes them weak.

Who is the oldest person with osteogenesis imperfecta? ›

[SHAREforAWARENESS] Interesting OI Fact: The oldest person we know who took the OI Adult Health Survey is 88 years old, and growing stronger! My father, who had OI Type 1, died last year at the age of 89 years and 3 1/2 months. I also have OI.

What are some fun facts about osteogenesis imperfecta? ›

Here are nine facts to increase your OI Awareness!
  • OI is a connective tissue disorder that affects between 20,000 and 50,000 Americans.
  • The most significant symptom of OI is fragile bones. ...
  • OI is not contagious.
3 May 2015

What is it like living with osteogenesis imperfecta? ›

Living with a chronic health condition can affect mental health in a number of ways. People with OI may experience low self-esteem, or anxiety. They may feel isolated, have a fear of early death or feel depressed. Serious problems such as these usually require help from medical professionals.

Can you run with osteogenesis imperfecta? ›

Patients with OI type I typically have recurrent fractures, normal or near normal stature and joint laxity. Individuals with OI type I are generally fully mobile but may experience limitations in overall strength during walking, running and daily living activities[6,7].

Can osteogenesis imperfecta affect the eyes? ›

While the skeletal manifestations are more predominant, OI can also present with ocular complications such as blue sclera, hyperopic or myopic eyes, retinal detachments, decreased corneal rigidity, and glaucoma.

How do you strengthen your bones? ›

Weight-bearing exercises, such as walking, jogging, and climbing stairs, can help you build strong bones and slow bone loss. Avoid substance abuse. Don't smoke. If you are a woman, avoid drinking more than one alcoholic drink each day.

What does osteogenesis imperfecta look like? ›

Symptoms of OI include: Easily broken bones. Bone deformities, such as bowing of the legs. Discoloration of the white of the eye (sclera), may be blue or gray in color.

What treatments are available for osteogenesis imperfecta? ›

Treatments for preventing or correcting symptoms may include:
  • Care of fractures.
  • Surgery.
  • Rodding - a procedure to insert a metal bar the length of a long bone to stabilize it and prevent deformity.
  • Dental procedures.
  • Physical therapy.
  • Assistive devices, such as wheelchairs, braces, and other custom-made equipment.

What is an OI baby? ›

Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It's also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.

What medications do people with OI take? ›

Bisphosphonates are drugs that have been used off label for the treatment of osteogenesis imperfecta (OI). Drugs in this class may slow the loss of existing bones and may reduce long bone fractures and vertebral compressions. The most commonly used drug in this class is pamidronate.

What are the complications of osteogenesis imperfecta? ›

Complications may include:
  • Hearing loss (common in type I and type III)
  • Heart failure (type II)
  • Respiratory problems and pneumonias due to chest wall deformities.
  • Spinal cord or brain stem problems.
  • Permanent deformity.
10 Aug 2021

What are 5 symptoms of osteoporosis? ›

Kuchynski says, include:
  • Fragility-related fractures. These occur when even mild impact causes a fracture of the wrist, back, hip or other bones.
  • Height loss. More than two inches in height can be lost over time.
  • Receding gums. ...
  • A curved, stooped shape to the spine. ...
  • Lower back pain.
13 Dec 2017

Can you play sports with osteogenesis imperfecta? ›

Participation in sports and exercise is recommended for children and young people with OI to promote general fitness, muscle strengthening and bones becoming stronger.

Who is the most famous person with a disability? ›

11 Outstanding People Living With Disability
  • 1) Stephen Hawking. Stephen Hawking was one of the most well-known physicists in the world, and was diagnosed with ALS when he was 21. ...
  • 2) FDR. ...
  • 3) Ralph Braun. ...
  • 4) John Hockenberry. ...
  • 5) Marlee Matlin. ...
  • 6) Stevie Wonder. ...
  • 7) Frida Kahlo. ...
  • 8) Helen Keller.

What disability does Elton John? ›

Elton John – the world-famous musician has struggled with epilepsy for many years.

What is OI treatment? ›

Some people with OI undergo surgery to correct bone deformities, including scoliosis and basilar invagination. A common surgical procedure for OI patients, “rodding,” is the placement of metal rods in the long bones of the legs. This strengthens them and helps prevent fractures. Some rods get longer as the legs grow.

Can you be diagnosed with osteogenesis imperfecta as an adult? ›

Adults with OI need to cope with the musculoskeletal (e.g. bones, joints, ligaments, tendons) concerns associated with OI and also manage all of the same health issues as other adults. Most adults with OI experience a decrease in the rate of broken bones (fractures) after puberty.

Why does osteogenesis imperfecta cause hearing loss? ›

The etiology of sensorineural hearing loss in OI has not been definitively determined but may be a consequence of atrophy of the cochlear hair cells and the stria vascularis as well as from abnormal bone formation in the cochlea and surrounding structures [25].

What causes osteogenesis imperfecta in a child? ›

Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic and inherited disorder characterized by fragile bones that break easily without a specific cause. OI is caused by a genetic defect affecting the non-mineral part of bone.

How many types of osteogenesis imperfecta are there? ›

There are eight major types of OI that can be classified as mild, moderate, or severe OI: Mild: Type I. Moderate: Type IV, V, VI, and VII. Severe or most severe: Type II, III, and VIII.

What are the 2 types of osteogenesis? ›

Static and dynamic osteogenesis: two different types of bone formation.

Why does osteogenesis imperfecta cause blue sclera? ›

Blue sclera is the most commonly known ocular sign for osteogenesis imperfecta and it is caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen. Patients with OI have shown a reduction in thickness of the corneal and scleral collagen fibers which can result in low ocular rigidity.

What do pointy canines mean? ›

Sharper, more prominent canines indicate a powerful, sometimes aggressive personality; whereas shorter canines with flattened tips tend to suggest a more passive individual. Feminine or masculine? Your lateral incisors (the teeth either side of your two front teeth) indicate a feminine or masculine personality.

Why do we have wisdom teeth? ›

Our Early Ancestors Needed Wisdom Teeth

In our caveman days, we didn't have forks and knives to cut up our food, and we couldn't even cook meat. Because early humans needed to chew coarse, hearty foods, they required a broader jaw. Wisdom teeth grew in to give them more chewing power for this purpose.

Can osteogenesis imperfecta be cured? ›

There's no cure for osteogenesis imperfecta. But a care team can help kids with problems related to the condition. If your child has brittle bone disease, the care team can include: a primary care provider (for routine health care)

Can someone with osteogenesis imperfecta walk? ›

Overall, individuals with OI of all types walked shorter distances in the 6MWT than healthy adults (Figure 5).

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.

At what age is osteogenesis imperfecta diagnosed? ›

How do healthcare providers diagnose osteogenesis imperfecta (OI)? If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy. If a parent or sibling has OI, a healthcare provider can test the DNA of the fetus for the presence of an OI mutation.

How do people get osteogenesis imperfecta? ›

Osteogenesis imperfecta (OI) occurs because of a gene mutation (change). This mutation may be sporadic (random) or a baby may inherit the gene from one or both parents. Some parents are carriers for the gene that causes OI. Being a carrier means you don't have the disease yourself but can pass it down to your child.

Can you get disability for osteogenesis? ›

In 2008 the SSA implemented the Compassionate Allowances guidelines, which allow some Social Security Disability applicants to be awarded benefits in under a month. Children who have been diagnosed with Type II Osteogenesis Imperfecta are among the applicants who can be awarded benefits under these guidelines.

What your teeth say about your personality? ›

Sharp, long and prominent canines suggest that an individual has an aggressive personality whereas blunt canines suggest a more calm and collective nature. Masculine/Feminine Traits: The teeth present in the sides of your front two teeth indicate your feminine or masculine traits.

What are shovel teeth? ›

Shovel-shaped incisors (or, more simply, shovel incisors) are incisors whose lingual surfaces are scooped as a consequence of lingual marginal ridges, crown curvature or basal tubercles, either alone or in combination.

Why are my canines so yellow? ›

Yellow Canines and Lower Incisors

Because canines withstand more wear and tear, they contain more dentin than other teeth. This extra thick dentin is covered with a thinner layer of enamel than other teeth. Thick dentin plus thin enamel is what causes these teeth to appear more yellow than others.

Why do we have 8th teeth? ›

If you ask an anthropologist, the dominant theory is that early humans developed those extra molars to help chew any and all uncooked food that our scavenging ancestors lived on, like roots and raw meat. Jaws were more pronounced back then, so the extra teeth fit in and enhanced their ability to consume food.

Why are humans losing wisdom teeth? ›

Fossils indicate that the first few generations who lived on earth had molars that were much larger in size. Evolution changed this pattern somewhere down the line and the first molars became the largest in the set. As we continue to evolve, studies indicate that future generations will have no wisdom teeth at all.

What happens if you dont take out your wisdom teeth? ›

Problems can include wisdom teeth that: Remain completely hidden within the gums. If they aren't able to emerge normally, wisdom teeth become trapped (impacted) within your jaw. Sometimes this can result in infection or can cause a cyst that can damage other teeth roots or bone support.

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