The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of dental color | 90% |
| Abnormality of dentin | 90% |
| Abnormality of the metaphyses | 90% |
| Abnormality of the ribs | 90% |
| Abnormality of the tibia | 90% |
| Blue sclerae | 90% |
| Convex nasal ridge | 90% |
| Decreased skull ossification | 90% |
| Gait disturbance | 90% |
| Intrauterine growth retardation | 90% |
| Macrocephaly | 90% |
| Pectus carinatum | 90% |
| Prominent occiput | 90% |
| Abnormal cortical bone morphology | 50% |
| Abnormal form of the vertebral bodies | 50% |
| Abnormality of the femur | 50% |
| Abnormality of the hip bone | 50% |
| Genu valgum | 50% |
| Glaucoma | 50% |
| Hyperhidrosis | 50% |
| Joint hypermobility | 50% |
| Narrow chest | 50% |
| Opacification of the corneal stroma | 50% |
| Reduced bone mineral density | 50% |
| Scoliosis | 50% |
| Slender long bone | 50% |
| Triangular face | 50% |
| Visual impairment | 50% |
| Abnormality of the endocardium | 7.5% |
| Hearing impairment | 7.5% |
| Kyphosis | 7.5% |
| Micromelia | 7.5% |
| Pectus excavatum | 7.5% |
| Recurrent fractures | 7.5% |
| Short stature | 7.5% |
| Subcutaneous hemorrhage | 7.5% |
| Thrombocytopenia | 7.5% |
| Umbilical hernia | 7.5% |
| Visceral angiomatosis | 7.5% |
| Wormian bones | 7.5% |
The 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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
These 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.
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location:
New London,
NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
Assessing the Impact of Osteogenesis Imperfecta on Non-Skeletal Systems
Wednesday, April 18, 2012 -
Friday, April 20, 2012
Location: Sheraton Gateway Suites,
Rosemont,
IL
Description: This meeting will focus on the impact of abnormal collagen on health in an effort to broaden professional awareness of the full spectrum of issues faced by persons with OI as they age. The goals are: 1)-to review current knowledge regarding the impact of OI on a wide range of bodily systems during the aging process, 2)-identify major information gaps, 3)-make recommendations to expand the OI research agenda. A Workshop Report will be compiled following the meeting in order to share these findings with health professionals and the OI community.
Contact: Theresa Smith, NIAMS(301) 435-5595smiththe@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
Improving Musculoskeletal Outcomes for Individuals with Osteogenesis Imperfecta
Wednesday, April 7, 2010 -
Friday, April 9, 2010
Location: Sheraton Gateway Suites,
Rosemont,
Illinois
Description: The goals of this workshop were to (1) assess the state of knowledge regarding the musculoskeletal aspects of aging with osteogenesis imperfecta (OI); (2) explore the potential for new diagnostic and therapeutic techniques for OI; and (3) build a consensus on essential measures for documenting OI treatment outcomes.
Contact: Dr. Theresa Smith, NIAMS(301) 435-5595smiththe@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
The following diseases are related to Osteogenesis imperfecta. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Can a person have osteogensis imperfecta (OI) without having any fractures? Can people with osteogenesis imperfecta (OI) have bone pain in areas where a fracture wasn't present? See answer
I am a restorative dentist. I have an eight year old patient diagnosed with osteogenesis imperfecta. Her brother does not have the disease. Her parents also do not have the disease. But, her mother's father has the disease. What could be the inheritance pattern? See answer
I have a cousin with osteogenesis imperfecta. Neither of his parents has the dominant gene. Is there a genetic test that can be done to determine whether I am a carrier? See answer
What are the chances of passing osteogenesis imperfecta on to a child while pregnant? Can a vaginal delivery be perfomed or will a C-section be necessary? See answer
