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Osteogenesis Imperfecta
Overview
Osteogenesis Imperfecta (OI) is characterized by brittle bones resulting from a genetic condition and associated symptoms may include muscle weakness, hearing loss, and spinal curvatures. Symptoms vary and even affected family members may experience different symtpoms. A categorization system of the Types of Osteogenesis Imperfecta can be used to differentiate the severity. Most cases are the result of a genetic mutation affecting the production of collagen. The cause for Types V and VI have not been identified and are not related to type 1 collagen production. Some types are OI are dominantly inherited while other types are recessively inherited. OI is estimated to affect from 20,000 to 50,000 individuals in the United States. [Osteogenesis Imperfecta]Resources
Information & Support
For Professionals
Types of Osteogenesis Imperfecta
A detailed description, including genetic differences and clinical charactistics, of the 8 types from the Osteogenesis Imperfecta
Foundation.
For Parents and Patients
Support
Osteogenesis Imperfecta Foundation
The OI Foundation provides information about the condition; research studies; conferences and events; recognizing child abuse;
and support groups in states.
General
Osteogenesis Imperfecta
An overview of the condition with links to additional resources, from the National Institutes of Health.
Osteogenesis Imperfecta (MedlinePlus)
From the National Library of Medicine, a brief overview of OI, illustrations, alternative names, symptoms, treatment, links
to other organizations, and more.
Little People of America
A non-profit organization for people of short stature that provides information and support; a medical resource center with
information about conditions; and information about conferences and events.
Osteogenesis Imperfecta (Shriners Hospitals for Children)
This non-profit hospital provides medical care for children and has experience treating OI.
National Organization of Rare Disorders
Provides information about rare "orphan" diseases and links to organizations that provide services to individuals with rare
diseases.
Children's Brittle Bone Foundation
Provides funding for research into the cause, treatment, prevention, and cure of osteogenesis imperfecta (OI).
Emergency Department Management of Osteogenesis Imperfect
Recommendations for caring for individuals with OI in the emergency room including transfers, checking for fractures, preventing
brusing, interpreting labs, managing pain, consulting an orthopedist, and more.
Services
National Support Groups, Disab/Diag
See all National Support Groups, Disab/Diag services providers (19) in our database.
For other services related to this condition, browse our Services categories or search our database.
Studies
Osteogenesis Imperfecta Clinical Trials
This NIH website lists current open clinical trials for OI.
Helpful Articles
PubMed search for articles on Osteogenesis Imperfecta in children for the last 3 years.
Glorieux FH.
Treatment of osteogenesis imperfecta: who, why, what?.
Horm Res.
2007;68 Suppl 5:8-11.
PubMed abstract
Martin E, Shapiro JR.
Osteogenesis imperfecta:epidemiology and pathophysiology.
Curr Osteoporos Rep.
2007;5(3):91-7.
PubMed abstract
Rauch F, Glorieux FH.
Treatment of children with osteogenesis imperfecta.
Curr Osteoporos Rep.
2006;4(4):159-64.
PubMed abstract
Authors
| Author: | James Bartlett MD, 4/2008 |
| Contributing Author: | Alfred Romeo RN, PhD, 4/2009 |
| Content Last Updated: | 5/2009 |