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Disease Profile
Osteogenesis imperfecta
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
All ages
ICD-10
Q78.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
OI; Brittle bone disease; Vrolik disease;
Categories
Congenital and Genetic Diseases
Summary
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 little or no trauma, however, severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (dentinogenesis imperfecta) and
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
||
---|---|---|---|---|
80%-99% of people have these symptoms | ||||
Abnormality of dental color |
Abnormality of tooth color
Abnormality of tooth shade
[ more ] |
0011073 | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 | ||
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 | ||
Abnormality of tibia morphology |
Abnormality of the shankbone
Abnormality of the shinbone
[ more ] |
0002992 | ||
Brachycephaly |
Short and broad skull
|
0000248 | ||
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 | ||
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 | ||
Decreased skull ossification |
Decreased bone formation of skull
|
0004331 | ||
Diaphyseal thickening |
Thickening of shaft or central part of long bones
|
0005019 | ||
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 | ||
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |||
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ] |
0000410 | ||
Pectus carinatum |
Pigeon chest
|
0000768 | ||
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 | ||
Thin ribs |
Slender ribs
|
0000883 | ||
30%-79% of people have these symptoms | ||||
Abnormal cortical bone morphology | 0003103 | |||
Biconcave vertebral bodies | 0004586 | |||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 | ||
Bone pain | 0002653 | |||
Corneal opacity | 0007957 | |||
Cutis laxa |
Loose and inelastic skin
|
0000973 | ||
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 | ||
Dentinogenesis imperfecta | 0000703 | |||
Enlarged vertebral pedicles | 0004621 | |||
Femoral bowing |
Bowed thighbone
|
0002980 | ||
Fractures of the long bones | 0003084 | |||
Genu valgum |
Knock knees
|
0002857 | ||
0000501 | ||||
Hypercalciuria |
Elevated urine calcium levels
|
0002150 | ||
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 | ||
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | ||
Large fontanelles |
Wide fontanelles
|
0000239 | ||
Loss of ability to walk | 0006957 | |||
Multiple rib fractures | 0006640 | |||
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 | ||
Osteopenia | 0000938 | |||
0000939 | ||||
Progressive hearing impairment | 0001730 | |||
Slender long bone |
Long bones slender
Thin long bones
[ more ] |
0003100 | ||
Vertebral compression fractures |
Compression fracture
|
0002953 | ||
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 | ||
5%-29% of people have these symptoms | ||||
Abnormal endocardium morphology | 0004306 | |||
Arthralgia |
Joint pain
|
0002829 | ||
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 | ||
Calcification of the interosseus membrane of the forearm | 0030267 | |||
Constipation | 0002019 | |||
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 | ||
Dislocated radial head | 0003083 | |||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |||
Flexion |
Flexed joint that cannot be straightened
|
0001371 | ||
Hyperplastic callus formation | 0030268 | |||
Inguinal hernia | 0000023 | |||
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ] |
0005214 | ||
Micromelia |
Smaller or shorter than typical limbs
|
0002983 | ||
Nephrolithiasis |
Kidney stones
|
0000787 | ||
Osteoarthritis |
Degenerative joint disease
|
0002758 | ||
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 | ||
Pectus excavatum |
Funnel chest
|
0000767 | ||
Protrusio acetabuli | 0003179 | |||
Relative macrocephaly |
Relatively large head
|
Cause Osteogenesis imperfecta (OI) may be caused by changes (
OI is most commonly due to a variation (mutation) in either the collagen genes COL1A1 or COL1A2 gene, which cause OI types I through IV. The collagen genes play a role in how the body makes collagen, a material that helps to strengthen the bones. The type and severity of OI depends on the effect that the specific variation has on normal collagen production.[3] OI caused by mutations in these genes is In about 10% of people with OI, the COL1A1 and COL1A2 genes are normal and the condition is due to variations in other genes; many of these people have an Types V and VI do not have a type 1 collagen variation, but the genes causing them have not yet been identified. However, there are other genes in which variations may be responsible for these types or other less common types of OI, which have been reported in only one individual or family: IFITM5 (type V) DiagnosisPrenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal 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 Testing Resources
TreatmentThe resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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