When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

DiGeorge syndrome

Last reviewed: 4 Nov 2023
Last updated: 03 Nov 2020



History and exam

Key diagnostic factors

  • cyanosis
  • signs of heart failure
  • heart murmur
  • characteristic facial features
  • cleft lip and palate
  • growth failure
  • seizure or tetany
More key diagnostic factors

Other diagnostic factors

  • presentation in infancy
  • feeding difficulty
  • speech delay
  • nonverbal learning disorder
  • frequent infections
  • schizophrenia
  • features of CHARGE syndrome
Other diagnostic factors

Risk factors

  • parent with DiGeorge syndrome
More risk factors

Diagnostic investigations

1st investigations to order

  • serum calcium
  • serum intact PTH
  • T-cell count
  • fluorescence in situ hybridization
  • immune-specific titers (if previously immunized)
  • CBC
  • TSH
  • chest x-ray
  • ECG
  • serum immunoglobulins
More 1st investigations to order

Investigations to consider

  • lymphocyte mitogen and antigen proliferation
  • karyotype
  • echocardiogram
  • renal ultrasound
  • audiometry
  • dental and palatal evaluations
  • ophthalmology evaluation
More investigations to consider

Emerging tests

  • microarray copy number analysis
  • mean platelet volume

Treatment algorithm


birth to 4 months

infants and toddlers

school-aged children




Sean A. McGhee, MD

Clinical Associate Professor

Stanford University




SAMG has provided testimony as an expert in a criminal case in which immune deficiency was a concern. SAMG is a co-author of a reference cited in this topic.

Maria Garcia Lloret, MD

Assistant Professor

David Geffen School of Medicine at UCLA

Los Angeles



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

Peer reviewers

Gabriela M. Repetto, MD


Centro de Genetica Humana

Facultad de Medicina

Clínica Alemana-Universidad del Desarrollo




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

Lisa Kobrynski, MD, MPH

Associate Professor of Pediatrics

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

Emory University




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 topic.

Winnie Ip, BHB, MBChB, FRACP, MD(Res)

Consultant Immunologist

Department of Immunology

Great Ormond Street Hospital




WI declares that she has no competing interests.

  • Differentials

    • Nonsyndromic anomalies
    • Isotretinoin exposure
    • CHARGE syndrome
    More Differentials
  • Guidelines

    • ESID registry - working definitions for clinical diagnosis of PID
    • Practical guidelines for managing adults with 22q11.2 deletion syndrome
    More Guidelines
  • Patient leaflets

    Heart failure

    Heart failure: how can I help myself?

    More Patient leaflets
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer