Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily. Sometimes the fractures happen for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong.
OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.
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Osteogenesis imperfecta
- Osteogenesis Imperfecta (National Library of Medicine)Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily. Sometimes the fractures happen for ...
- Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People ...
- Osteogenesis imperfecta is a condition causing extremely fragile bones. ... Osteogenesis imperfecta (OI) is present at birth. It is often caused by a defect in the gene that ...
- Connective Tissue Disorders (National Library of Medicine)... such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta Autoimmune disorders, such as lupus and scleroderma Cancers, ...
- ... be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. ... considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without ...
- ... carriers may have decreased bone mineral density. OPPG Osteogenesis imperfecta, ocular form Genetic Testing Registry: Osteoporosis with pseudoglioma ...
- ... Ehlers-Danlos syndrome. More About This Health Condition Osteogenesis imperfecta is the most common disorder caused by mutations ... imperfecta. Hundreds of COL1A1 gene mutations that cause osteogenesis imperfecta have been identified. Most of the mutations that ...
- ... Most COL1A2 gene mutations cause severe forms of osteogenesis imperfecta, including types II, III, and IV. People with ... cause. Mutations in the COL1A2 gene occasionally cause osteogenesis imperfecta type I, the mildest form of this disorder. ...
- ... This Health Condition MedlinePlus Genetics provides information about Osteogenesis imperfecta More About This Health Condition Mutations in the ... 1. This condition has features similar to both osteogenesis imperfecta type XI and Kuskokwim syndrome (described above): affected ...
- ... problems. These can include rickets and brittle bones ( osteogenesis imperfecta ). ... problem is present. No testing is done unless osteogenesis imperfecta or rickets is suspected.
