Osteogenesis imperfecta type 1
Synonyms: Adair-Dighton syndrome | Mild osteogenesis imperfecta | Non-deforming osteogenesis imperfecta | OI type 1 | Van der Hoeve syndrome
A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures) normal height or short stature (typically between 0 and -2.0 SD scores) mild (Cobb angle <30 degrees) or no scoliosis blue sclera and in dentinogenesis imperfecta and mild long bone bowing bone deformities.
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 December 2023
Newly diagnosed with
Osteogenesis imperfecta type 1?
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 (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Clinical Trials
For a list of clinical trials in this disease area, please click here.