Brittle bone disease; Fragilitas ossium; Lobstein disease; OI; Osteopsathyrosis; Porak and Durante disease; Vrolik diseaseBrittle bone disease; Fragilitas ossium; Lobstein disease; OI; Osteopsathyrosis; Porak and Durante disease; Vrolik disease
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the development of the bones. People with this condition have bones that break easily, often from little or no trauma. However, the severity is different from person to person. 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 may also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing.
Estimated Number of People with this Disease
In the U.S. there may be between
3,000 to 30,000
What Information Does GARD Have For This Disease?
Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:
*Data may be currently unavailable to GARD at this time.
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).
Symptoms
These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom. This disease might cause these symptoms:
108 Symptoms
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Medical Term
Abnormal dental enamel morphology
Frequency: Very frequent
Description
An abnormality of the dental enamel.
An abnormality of the dental enamel.
Synonym
Malformation of tooth enamel
Malformation of tooth enamel
108 Symptoms
Causes
This section is currently in development.
Inheritance
All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):
Questions:
Autosomal dominant inheritance
Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.
Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.
Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.
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X-linked recessive inheritance
X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
Because women have two X chromosomes, a pathogenic variant for an X-lined recessive disease generally needs to occur in both copies of the gene to cause the disease. Because men have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause the disease. Women who have a pathogenic variant in one copy of the gene, are called carriers. In rare cases, women carriers may experience mild to moderate symptoms but most have no symptoms.
A woman who carries one X-linked gene variant has a 50% (1 in 2) chance of having a son with the disease and a 50% (1 in 2) chance of having a daughter who is a carrier. A man with an X-linked recessive disease cannot pass on the disease to his sons, but all of his daughters will be carriers. If a male child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother or may have occurred by chance for the first time in the child (de novo).X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
Because women have two X chromosomes, a pathogenic variant for an X-lined recessive disease generally needs to occur in both copies of the gene to cause the disease. Because men have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause the disease. Women who have a pathogenic variant in one copy of the gene, are called carriers. In rare cases, women carriers may experience mild to moderate symptoms but most have no symptoms.
A woman who carries one X-linked gene variant has a 50% (1 in 2) chance of having a son with the disease and a 50% (1 in 2) chance of having a daughter who is a carrier. A man with an X-linked recessive disease cannot pass on the disease to his sons, but all of his daughters will be carriers. If a male child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother or may have occurred by chance for the first time in the child (de novo).
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X-linked inheritance
X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. X-linked diseases are caused by disease-causing (pathogenic) variants in genes on the X chromosome. Mutation is an older term that is still sometimes used to mean pathogenic variant.
The inheritance pattern of many X-linked diseases is not clearly dominant or recessive and so the pattern may be stated as X-linked inheritance. Because men have only one copy of genes on the X chromosome, a pathogenic variant in one copy can cause the disease. Women who have a pathogenic variant in one copy of the gene usually have less severe symptoms than males who have the disease or may have no symptoms at all. Women who have pathogenic variants in both copies of the gene would have symptoms similar to men.
A woman who carries one X-linked pathogenic variant has a 50% (1 in 2) chance of having a son or daughter who has a pathogenic variant in one copy of the gene. A man with an X-linked disease cannot pass on the disease to his sons, but all of his daughters will have a pathogenic variant in one copy of the gene. If a child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother who did not have symptoms or may have occurred by chance for the first time in the child (de novo).X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. X-linked diseases are caused by disease-causing (pathogenic) variants in genes on the X chromosome. Mutation is an older term that is still sometimes used to mean pathogenic variant.
The inheritance pattern of many X-linked diseases is not clearly dominant or recessive and so the pattern may be stated as X-linked inheritance. Because men have only one copy of genes on the X chromosome, a pathogenic variant in one copy can cause the disease. Women who have a pathogenic variant in one copy of the gene usually have less severe symptoms than males who have the disease or may have no symptoms at all. Women who have pathogenic variants in both copies of the gene would have symptoms similar to men.
A woman who carries one X-linked pathogenic variant has a 50% (1 in 2) chance of having a son or daughter who has a pathogenic variant in one copy of the gene. A man with an X-linked disease cannot pass on the disease to his sons, but all of his daughters will have a pathogenic variant in one copy of the gene. If a child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother who did not have symptoms or may have occurred by chance for the first time in the child (de novo).
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Autosomal recessive inheritance
Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
A person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
A person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease.
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Next Steps
Talking with the Medical Team
Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.
Describing Symptoms
Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.
To help describe a symptom:
Use a smartphone or a notebook to record each symptom before the appointment
Describe each symptom by answering the following questions:
When did the symptom start?
How often does it happen?
Does anything make it better or worse?
Tell the medical team whether any symptoms affect daily activities
Preparing for the First Visit
Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.
Make informed decisions about health care:
Prepare a list of questions and concerns before the appointment
List the most important questions first, not all questions may be answered in the first visit
Ask questions about symptoms, possible diagnoses, tests, and treatment options
For future appointments:
Discuss what was not addressed at the last visit
Discuss changes in the quality of life for the patient, family, and caregivers
Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
Take notes during the appointments to help remember what was discussed.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
