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.

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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

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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

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werathah

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

Last Updated: 1 May 2013

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General Support Organizations

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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

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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

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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

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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 511 free, full-text research articles on human participants. First 3 results:

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
 

Author(s): Roberto Mendoza-Londono, Somayyeh Fahiminiya, Jacek Majewski, , Martine Tétreault, Javad Nadaf, Peter Kannu, Etienne Sochett, Andrew Howard, Jennifer Stimec, Lucie Dupuis, Paul Roschger, Klaus Klaushofer, Telma Palomo, Jean Ouellet, Hadil Al-Jallad, John S Mort, Pierre Moffatt, Sergei Boudko, Hans-Peter Bächinger, Frank Rauch

Journal: Am. J. Hum. Genet.. 2015 Jun;96(6):979-85.

 

Secreted protein, acidic, cysteine-rich (SPARC) is a glycoprotein that binds to collagen type I and other proteins in the extracellular matrix. Using whole-exome sequencing to identify the molecular defect in two unrelated girls with severe bone fragility and a clinical diagnosis ...

Last Updated: 6 Jun 2015

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Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.
 

Author(s): Katre Maasalu, Tiit Nikopensius, Sulev Kõks, Margit Nõukas, Mart Kals, Ele Prans, Lidiia Zhytnik, Andres Metspalu, Aare Märtson

Journal:

 

Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues ...

Last Updated: 14 May 2015

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[Zoledronic acid (zoledronate) in children with osteogenesis imperfecta].
 

Author(s): Luz María Sánchez-Sánchez, Alfredo Uriel Cabrera-Pedroza, Gerardo Palacios-Saucedo, Beatriz de la Fuente-Cortez

Journal: Gac Med Mex. ;151(2):164-8.

 

Zoledronic acid or zo/edronate is a potent bisphosphonate that recently has been used in children with osteoporosis and osteogenesis imperfecta (01), so it could be an option in the treatment of children with this terrible disease that virtually condemns them to a life of pain and ...

Last Updated: 7 May 2015

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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 29 free, full-text review articles on human participants. First 3 results:

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.
 

Author(s): Maman Joyce Dogba, Frank Rauch, Erin Douglas, Christophe Bedos

Journal:

 

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on ...

Last Updated: 14 Jul 2015

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What is new in genetics and osteogenesis imperfecta classification?
 

Author(s): Eugênia R Valadares, Túlio B Carneiro, Paula M Santos, Ana Cristina Oliveira, Bernhard Zabel

Journal: J Pediatr (Rio J). ;90(6):536-41.

 

Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification.

Last Updated: 2 Dec 2014

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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

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

BBD Longitudinal Study of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 26 Jan 2016

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Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Dwarfism; Osteogenesis Imperfecta

 

Last Updated: 6 Oct 2015

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Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 17 Mar 2015

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