Ver el código de «DiGeorge syndrome»

==Background==
*The most common microdeletion disorder in humans<ref>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.</ref>
*As prevalent as 1/2000 people in US
*22q11 chromosomal defect
**Cause by a de novo heterozygous deletion of approximately 2.5 mb in length on chromosome 22q11.<ref>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.</ref>
*Keep in differential for [[hypocalcemia]] of unknown etiology in pediatric patient

==Clinical features==
===CATCH-22<ref>Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.</ref>===
*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.<ref>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. </ref>

==Differential diagnosis==

==Evaluation==

==Management<ref>Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039</ref>== 
*Disease involves multiple systems and thus management depends on presentating chief complaint. 
*Identify and treat [[hypocalcemia]] as these patients are at risk for seizures<ref>Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039</ref>
**Vitamin D supplementation may also be needed
*Psychiatric Disorders (60%)
*[[Thrombocytopenia]] (30%)
*[[Hypothyroidism]] (20%)
*[[Cholelithiasis]] (20%)

==Disposition==

==See also==

==References==
<references/>

[[Category:Pediatrics]]