Osteogenesis imperfecta
Synonyms: Brittle bone disease | Glass bone disease | Lobstein disease | OI
A rare genetic primary bone dysplasias characterized by increased bone fragility low bone mass and susceptibility to bone fractures. The clinical severity is heterogeneous.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Osteogenesis imperfecta?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Osteogenesis Imperfeca Foundation
The mission of the OI Foundation is to improve the quality of life for those living with osteogenesis imperfecta through research, education, awareness, and mutual support.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.