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(Q87.5) Other congenital malformation syndromes with other skeletal changes
More details coming soon
118 733 in individuals diagnosis other congenital malformation syndromes with other skeletal changes confirmed
15 317 deaths with diagnosis other congenital malformation syndromes with other skeletal changes
13% mortality rate associated with the disease other congenital malformation syndromes with other skeletal changes
Diagnosis other congenital malformation syndromes with other skeletal changes is diagnosed Men are 4.38% more likely than Women
61 965
Men receive the diagnosis other congenital malformation syndromes with other skeletal changes
7 500 (12.1 %)Died from this diagnosis.
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56 768
Women receive the diagnosis other congenital malformation syndromes with other skeletal changes
7 817 (13.8 %)Died from this diagnosis.
Risk Group for the Disease other congenital malformation syndromes with other skeletal changes - Men and Women aged 0
In Men diagnosis is most often set at age 0-49, 55-59, 65-69
Less common in men the disease occurs at Age 50-54, 60-64, 70-95+Less common in women the disease occurs at Age 80-95+
In Women diagnosis is most often set at age 0-79
Disease Features other congenital malformation syndromes with other skeletal changes
Absence or low individual and public risk
Other congenital malformation syndromes with other skeletal changes - what does this mean
Other congenital malformation syndromes with other skeletal changes occur when a baby is born with a genetic disorder that causes abnormalities in the bones and other parts of the body. this can include abnormalities in the shape of the skull, spine, or limbs, as well as other skeletal changes such as joint and bone deformities. these syndromes can be caused by a single gene mutation or a combination of multiple genetic defects.
What happens during the disease - other congenital malformation syndromes with other skeletal changes
Other congenital malformation syndromes with other skeletal changes are caused by a variety of genetic and environmental factors. mutations in genes that control growth and development can lead to skeletal malformations, including abnormal bone and cartilage formation. exposure to certain environmental agents such as radiation, drugs, or toxic chemicals can also cause changes in the structure and function of the skeletal system. additionally, nutritional deficiencies can lead to abnormal bone and cartilage development.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Genetic testing
- Imaging studies (X-rays, CT scan, MRI)
- Chromosomal analysis
- Echocardiogram
- Blood tests
- Urine tests
- Neurological tests
- Developmental assessments
- Audiometry
Treatment and Medical Assistance
Main Goal: Treat the disease and improve the patient's quality of life
- Perform physical examinations to assess the extent of the malformation and other skeletal changes
- Order imaging studies such as X-rays, CT scans, and MRI scans to accurately diagnose the condition
- Prescribe medications to manage pain and other symptoms
- Refer the patient to a geneticist for genetic testing and counseling
- Refer the patient to a physical therapist to help with mobility and physical activity
- Refer the patient to an occupational therapist to help with daily activities
- Refer the patient to a psychologist or therapist to help with emotional and social support
- Refer the patient to a nutritionist to help with dietary needs
- Refer the patient to a specialist for surgical interventions, if necessary
16 Days of Hospitalization Required
29 Hours Required for Outpatient Treatment
Other congenital malformation syndromes with other skeletal changes - Prevention
The best way to prevent other congenital malformation syndromes with other skeletal changes is to ensure that pregnant women receive adequate prenatal care. this includes regular check-ups with a doctor, as well as taking prenatal vitamins and avoiding alcohol, drugs, and smoking. additionally, it is important to ensure that all necessary vaccinations are up to date before becoming pregnant.