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(Q78.5) Metaphyseal dysplasia
More details coming soon
153 430 in individuals diagnosis metaphyseal dysplasia confirmed
2 369 deaths with diagnosis metaphyseal dysplasia
2% mortality rate associated with the disease metaphyseal dysplasia
Diagnosis metaphyseal dysplasia is diagnosed Men are 15.04% more likely than Women
88 252
Men receive the diagnosis metaphyseal dysplasia
1 500 (1.7 %)Died from this diagnosis.
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65 178
Women receive the diagnosis metaphyseal dysplasia
869 (1.3 %)Died from this diagnosis.
Risk Group for the Disease metaphyseal dysplasia - 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 metaphyseal dysplasia
Absence or low individual and public risk
Metaphyseal dysplasia - what does this mean
Metaphyseal dysplasia is a genetic disorder that causes abnormal growth in the bones of the arms and legs. it is caused by a mutation in the genes responsible for the production of cartilage, which leads to abnormal bone formation and growth. symptoms include short stature, bowed legs, and widening of the ends of the long bones. treatment typically includes physical therapy and medications to help manage pain and improve mobility.
What happens during the disease - metaphyseal dysplasia
Metaphyseal dysplasia is a group of genetic disorders caused by a mutation in the genes that control the formation of cartilage and bone during fetal development. the mutation results in abnormal bone growth, leading to bone deformities and skeletal abnormalities such as short stature, short and bowed limbs, and a wide chest. in some cases, there may also be abnormal facial features, joint problems, and other health issues.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical Exam
- X-ray imaging
- Blood tests
- Genetic testing
- Bone biopsy
- MRI scan
Treatment and Medical Assistance
Main goal of the treatment: To reduce the severity of the symptoms of Metaphyseal dysplasia and improve the quality of life of those affected.
- Administering medication to reduce pain.
- Physical therapy to improve mobility.
- Occupational therapy to help manage daily activities.
- Surgery to correct any skeletal deformities.
- Counselling to help manage psychological issues.
- Nutritional guidance to ensure proper nutrition.
- Regular check-ups to monitor the condition.
10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Metaphyseal dysplasia - Prevention
Metaphyseal dysplasia can be prevented by following a healthy lifestyle, including eating a balanced diet, exercising regularly, and avoiding smoking and excessive alcohol consumption. additionally, it is important to be aware of any family history of the disease and to seek medical advice if any symptoms are present.