DiGeorge syndrome
Background
- The most common microdeletion disorder in humans[1]
- As prevalent as 1/2000 people in US
- 22q11 chromosomal defect
- Keep in differential for hypocalcemia of unknown etiology in pediatric patient
Clinical features
CATCH-22[2]
- Cardiac defects (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot)
- Abnormal facies - micrognathia, long face, etc.
- Thymic hypoplasia - immune deficiencies
- Cleft palate
- Hypocalcemia due to hypoparathyroidism
- Additional phenotypes include neurodevelopmental defects and urogenital malformations.
- Congenital kidney and urinary tract anomalies are present in approximately 30% of the patients with the DiGeorge syndrome.[3]
Differential diagnosis
Evaluation
Management
Disposition
See also
References
- ↑ Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.
- ↑ Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.
- ↑ Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.