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(D82.1) Di george syndrome
More details coming soon
57 978 in individuals diagnosis di george syndrome confirmed
2 889 deaths with diagnosis di george syndrome
5% mortality rate associated with the disease di george syndrome
Diagnosis di george syndrome is diagnosed Men are 15.88% more likely than Women
33 592
Men receive the diagnosis di george syndrome
1 730 (5.2 %)Died from this diagnosis.
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24 386
Women receive the diagnosis di george syndrome
1 159 (4.8 %)Died from this diagnosis.
Risk Group for the Disease di george syndrome - Men and Women aged 5-9
In Men diagnosis is most often set at age 0-19, 25-29, 40-44, 50-64, 70-84
Less common in men the disease occurs at Age 20-24, 30-39, 45-49, 65-69, 85-95+Less common in women the disease occurs at Age 40-44, 50-69, 80-95+
In Women diagnosis is most often set at age 0-39, 45-49, 70-79
Disease Features di george syndrome
Absence or low individual and public risk
Di george syndrome - what does this mean
Di george syndrome is a genetic disorder caused by a deletion of a small piece of chromosome 22. this causes a disruption in the development of certain organs, such as the thymus, which is important for the body's immune system. it can also cause heart defects, cleft palate, and learning disabilities.
What happens during the disease - di george syndrome
Di george syndrome (dgs) is a genetic disorder caused by a deletion of the 22nd chromosome, resulting in a lack of development of the thymus and parathyroid glands. this leads to a wide range of symptoms, including immune deficiency, hypocalcemia, and congenital heart defects. the underlying cause of the deletion is unknown, but it is thought to be caused by a combination of genetic and environmental factors.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical Examination
- Blood Tests (CBC, Metabolic Panel, Calcium, Phosphorus, Vitamin D Levels)
- Chromosomal Analysis
- Echocardiogram
- CT Scan or MRI
- Electrocardiogram (ECG)
- Urine Tests
- Genetic Testing
Treatment and Medical Assistance
Main goal of the treatment: To manage the symptoms of Di George Syndrome and improve the quality of life of the patient.
- Regular monitoring of cardiac, respiratory, and endocrine health
- Regular monitoring of calcium and vitamin D levels
- Antibiotic therapy for recurrent infections
- Surgery to correct any malformations
- Speech, physical, and occupational therapy
- Behavioral therapy for any associated psychological issues
- Dental care to prevent cavities and other dental issues
- Regular monitoring of growth and development
- Nutritional counseling
- Medication to treat seizures
8 Days of Hospitalization Required
55 Hours Required for Outpatient Treatment
Di george syndrome - Prevention
The best way to prevent di george syndrome is to ensure that pregnant women receive regular prenatal care and testing, including screening for genetic conditions. additionally, it is important to be aware of the risk factors associated with this condition, such as a family history of di george syndrome, and to seek early medical attention if any symptoms are present.