DISEASE SCANNER
Global Incurable Diseases Tracker
22q11.2 Deletion Syndrome (DiGeorge Syndrome)
The most common microdeletion syndrome caused by deletion of 22q11.2. Characterized by congenital heart defects, thymic hypoplasia, immunodeficiency, hypocalcemia, and characteristic facial features. Variable expressivity.
800.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Fluorescence in situ hybridization (FISH)
- 2Chromosomal microarray (CMA)
- 3MLPA (Multiplex Ligation-dependent Probe Amplification)
- 4Echocardiography for cardiac defects
- 5Immunologic evaluation
- 6Calcium level monitoring
Prognosis
Good with comprehensive care. 85% survive to adulthood. Cardiac surgery outcomes excellent. Cognitive function ranges from normal to mild intellectual disability. Mental health conditions manageable with support. Life expectancy near normal with proper management.
Prevention
- Genetic counseling for affected families
- Prenatal diagnosis via CVS or amniocentesis
- Preimplantation genetic diagnosis (PGD)
- Carrier testing in parents
Research Status
Cardiac surgery for heart defects. Calcium and vitamin D supplementation. Immune monitoring. Early intervention services. Mental health support. Multidisciplinary care throughout life.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.