Highlights & Basics
- DiGeorge syndrome (also known as 22q11.2 deletion syndrome) predominantly results from a microdeletion in chromosome 22, which disrupts the development of the pharyngeal arches and pouches, and may also cause neurologic, immunologic, endocrinologic, or cognitive deficits.
- Classic presentation is a triad of cardiac anomalies, hypoplastic thymus, and hypocalcemia, but clinical manifestations are highly variable, ranging from mild learning disabilities to the complete spectrum of congenital malformations. This phenotypic variability occurs despite a highly consistent genetic lesion.
- Presenting signs and symptoms depend on age at diagnosis and the organ system affected.
- Treatment modalities depend on clinical manifestations present in the individual patient. Management follows typical practice for patients without the syndrome, for any given feature.
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History & Exam
Key Factors
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Definition
Epidemiology
Etiology
Pathophysiology
Citations
European Society for Immunodeficiencies. Clinical Working Party diagnostic criteria for PID: DiGeorge syndrome diagnostic criteria [internet publication].[Full Text]
Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100344.[Abstract][Full Text]
Óskarsdóttir S, Boot E, Crowley TB, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100338.[Abstract][Full Text]
Mustillo PJ, Sullivan KE, Chinn IK, et al. Clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic development. J Clin Immunol. 2023 Feb;43(2):247-70.[Abstract][Full Text]
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