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(Q78.0) Osteogenesis imperfecta
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153 430 in individuals diagnosis osteogenesis imperfecta confirmed
2 369 deaths with diagnosis osteogenesis imperfecta
2% mortality rate associated with the disease osteogenesis imperfecta
Diagnosis osteogenesis imperfecta is diagnosed Men are 15.04% more likely than Women
88 252
Men receive the diagnosis osteogenesis imperfecta
1 500 (1.7 %)Died from this diagnosis.
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65 178
Women receive the diagnosis osteogenesis imperfecta
869 (1.3 %)Died from this diagnosis.
Risk Group for the Disease osteogenesis imperfecta - Men aged 10-14 and Women aged 5-9
In Men diagnosis is most often set at age 0-79
Less common in men the disease occurs at Age 80-95+Less common in women the disease occurs at Age 75-84, 90-95+
In Women diagnosis is most often set at age 0-74, 85-89
Disease Features osteogenesis imperfecta
Absence or low individual and public risk
Osteogenesis imperfecta - what does this mean
Osteogenesis imperfecta is a genetic disorder caused by a mutation in the genes that code for collagen, a major component of bone. this mutation results in an abnormal production of collagen, leading to fragile bones that are prone to fracture.
What happens during the disease - osteogenesis imperfecta
Osteogenesis imperfecta is a genetic disorder caused by a mutation in the collagen type 1 gene, which is responsible for producing the protein collagen. this mutation leads to weak and brittle bones due to the lack of collagen, which is essential for the formation of strong bones. additionally, the lack of collagen can cause other issues such as fragile skin, teeth, and organs, as well as an increased risk of bone fractures.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- X-ray imaging
- Bone biopsy
- Blood tests
- Genetic testing
- CT scan
- Ultrasound imaging
Treatment and Medical Assistance
Main Goal: Treating Osteogenesis Imperfecta
- Providing adequate nutrition to support bone health
- Exercising regularly to build muscle and strengthen bones
- Taking medications such as bisphosphonates to prevent bone loss
- Using orthopedic devices such as braces and wheelchairs to support mobility
- Undergoing physical therapy to improve strength and balance
- Receiving injections of bone-strengthening drugs
- Undergoing surgery to correct bone deformities
10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Osteogenesis imperfecta - Prevention
Osteogenesis imperfecta is a genetic disorder that affects the bones and can be prevented by genetic counseling prior to conception, as well as screening for the disorder during pregnancy. it is important for individuals to be aware of their family’s medical history in order to identify any potential risks and take the necessary precautions.