Osteogenesis Imperfecta (Noun)
Meaning
Autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily.
Classification
Nouns denoting natural processes.
Examples
- The genetic disorder osteogenesis imperfecta affects the production of collagen, leading to extremely fragile bones and frequent fractures.
- People with osteogenesis imperfecta often experience a wide range of symptoms, including short stature, brittle teeth, and joint issues.
- Osteogenesis imperfecta is usually inherited in an autosomal dominant pattern, which means a mutation in one copy of the gene is enough to cause the condition.
- Due to its rarity, osteogenesis imperfecta is often misdiagnosed and its symptoms attributed to child abuse, so proper diagnosis is crucial for affected families.
- Early diagnosis and management of osteogenesis imperfecta are essential for minimizing fractures and improving quality of life for those with this condition.