Osteogenesis imperfecta

Common Name(s)

Osteogenesis imperfecta

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 mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, as well as by genetic factors. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta" for support, advocacy or research.

Logo
Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

Last Updated: 15 Feb 2013

View Details
Logo
Osteogenesis Imperfecta Foundation

We seek to improve the quality of life for people with OI through research to find treatments and a cure, education, awareness and mutual support.

Last Updated: 3 Dec 2012

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta" for support, advocacy or research.

Logo
Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

http://www.cbbf.org

Last Updated: 15 Feb 2013

View Details
Logo
Osteogenesis Imperfecta Foundation

We seek to improve the quality of life for people with OI through research to find treatments and a cure, education, awareness and mutual support.

http://www.oif.org

Last Updated: 3 Dec 2012

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Osteogenesis imperfecta" returned 434 free, full-text research articles on human participants. First 3 results:

From pediatric to adult care: strategic evaluation of a transition program for patients with osteogenesis imperfecta.
 

Author(s): Maman Joyce Dogba, Frank Rauch, Trudy Wong, Joanne Ruck, Francis H Glorieux, Christophe Bedos

Journal:

 

Achieving a successful transition from pediatric to adult care for young adults with special needs, especially rare genetic diseases such as osteogenesis imperfecta (OI), is a prominent issue in healthcare research. This transition represents a challenge for patients with OI, their ...

Last Updated: 24 Jan 2015

Go To URL
Two years' experience with denosumab for children with osteogenesis imperfecta type VI.
 

Author(s): Heike Hoyer-Kuhn, Christian Netzer, Friederike Koerber, Eckhard Schoenau, Oliver Semler

Journal:

 

Osteogenesis imperfecta (OI) is a hereditary disease causing reduced bone mass, increased fracture rate, long bone deformities and vertebral compressions. Additional non skeletal findings are caused by impaired collagen function and include hyperlaxity of joints and blue sclera. Most ...

Last Updated: 2 Mar 2015

Go To URL
Correction of malocclusion and oral rehabilitation in a case of amelogenesis imperfecta by insertion of dental implants followed by Le Fort I distraction osteogenesis of the edentulous atrophic maxilla.
 

Author(s): Aysegul Apaydin, Bulent Sermet, Sevin Ureturk, Abdulsamet Kundakcioglu

Journal:

 

Amelogenesis imperfecta refers a group of hereditary diseases affecting the teeth and can present a variety of clinical forms and appearances, compromising esthetic appearance. Amelogenesis imperfecta variably reduces oral health quality and can result in severe psychological problems.

Last Updated: 23 Sep 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Osteogenesis imperfecta" returned 25 free, full-text review articles on human participants. First 3 results:

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
 

Author(s): Joan C Marini, Adi Reich, Simone M Smith

Journal: Curr. Opin. Pediatr.. 2014 Aug;26(4):500-7.

 

Osteogenesis imperfecta or 'brittle bone disease' has mainly been considered a bone disorder caused by collagen mutations. Within the last decade, however, a surge of genetic discoveries has created a new paradigm for osteogenesis imperfecta as a collagen-related disorder, where most ...

Last Updated: 11 Jul 2014

Go To URL
What type of valve is most appropriate for osteogenesis imperfecta patients?
 

Author(s): Georgios Dimitrakakis, Dimitrios Challoumas, Ulrich Otto von Oppell

Journal: Interact Cardiovasc Thorac Surg. 2014 Sep;19(3):499-504.

 

A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was in osteogenesis imperfecta (OI) patients with valve disease undergoing valve replacement which type of valve (bioprosthetic or mechanical) is most appropriate in terms ...

Last Updated: 15 Aug 2014

Go To URL
Treatment of osteogenesis imperfecta in adults.
 

Author(s): Katarina Lindahl, Bente Langdahl, Ă–sten Ljunggren, Andreas Kindmark

Journal: Eur. J. Endocrinol.. 2014 Aug;171(2):R79-90.

 

Osteogenesis imperfecta (OI) is a heterogeneous rare connective tissue disorder commonly caused by mutations in the collagen type I genes. Pharmacological treatment has been most extensively studied in children, and there are only few studies comprising adult OI patients.

Last Updated: 30 Jun 2014

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

BBD Longitudinal Study of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 30 Jul 2015

Go to URL
Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Dwarfism; Osteogenesis Imperfecta

 

Last Updated: 21 Oct 2014

Go to URL
Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 17 Mar 2015

Go to URL