Last reviewed:December 2019
Last updated:March  2018

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • cyanosis
  • signs of heart failure
  • heart murmur
  • characteristic facial features
  • cleft lip and palate
  • growth failure
  • seizure or tetany

Other diagnostic factors

  • presentation in infancy
  • feeding difficulty
  • speech delay
  • non-verbal learning disorder
  • frequent infections
  • schizophrenia
  • features of CHARGE syndrome

Risk factors

  • parent with DiGeorge syndrome

Diagnostic investigations

Treatment algorithm

Contributors

Assistant Clinical Professor

Stanford University

Stanford

CA

Disclosures

SAMG is a co-author of a reference cited in this monograph.

Assistant Professor

David Geffen School of Medicine at UCLA

Los Angeles

CA

Disclosures

MGL is a co-author of a reference cited in this monograph.

Peer reviewersVIEW ALL

Director

Centro de Genetica Humana

Facultad de Medicina

ClĂ­nica Alemana-Universidad del Desarrollo

Santiago

Chile

Disclosures

GMR is a co-author of a reference cited in this monograph.

Associate Professor of Pediatrics

Division of Pulmonary, Allergy & Immunology, Cystic Fibrosis, and Sleep

Emory University

Atlanta

GA

Disclosures

LK is an investigator in clinical trials by Baxter Bioscience. These trials do not involve patients with 22q11DS. LK is an author of a number of references cited in this monograph.

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