eMedicine Specialties > Pediatrics: General Medicine > Allergy & Immunology

DiGeorge Syndrome: Differential Diagnoses & Workup

Author: Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Contributor Information and Disclosures

Updated: Oct 29, 2008

Differential Diagnoses

Velocardiofacial Syndrome

Other Problems to Be Considered

CTAF syndrome
Caylor syndrome
Alagille syndrome
Vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal abnormalities, limb abnormalities (VACTERL) association
Goldenhar syndrome
CHARGE syndrome

Workup

Laboratory Studies

  • Perform fluorescent in situ hybridization (FISH) to detect the 22q11.2 deletion. Standard chromosome analysis should be performed concurrently to look for rearrangements and other chromosomal abnormalities.
  • A few individuals with findings of the 22q11.2 deletion syndrome have normal routine cytogenetic study findings and no deletion on FISH testing findings using the commercially available probes. In these patients, array comparative genomic hybridization (aCGH) and TBX1 gene sequencing should be considered in consultation with a clinical geneticist.
  • Perform an absolute lymphocyte count in the peripheral blood. If lymphopenia is present, consult an immunologist and obtain T-cell and B-cell counts.
  • Measure ionized serum calcium levels to evaluate parathyroid function. If the levels are low, obtain simultaneous ionized serum calcium and parathyroid hormone levels. Consult an endocrinologist as well.

Imaging Studies

  • Cardiac: Perform chest radiography and other imaging studies based on the cardiologist's recommendations.
  • Thymus: Chest radiography can reveal a decreased thymic silhouette but are unreliable. MRI is slightly better; however, thymic size evaluation is not recommended because it is a poor predictor of immune function.
  • Head and neck: Magnetic resonance angiography (MRA) or conventional angiography is necessary before performing neck surgery to identify abnormalities of the internal carotid arteries.

Procedures

  • Cardiac catheterization studies are performed as needed to assess cardiac anatomy.

More on DiGeorge Syndrome

Overview: DiGeorge Syndrome
Differential Diagnoses & Workup: DiGeorge Syndrome
Treatment & Medication: DiGeorge Syndrome
Follow-up: DiGeorge Syndrome
References
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References

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  2. Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. Jan 1978;15(1):56-62. [Medline].

  3. de la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet. 1981;57(3):253-6. [Medline].

  4. Sedlackova E. [Insufficiency of palatolaryngeal passage as a developmental disorder.]. Cas Lek Cesk. Nov 25 1955;94(47-48):1304-7. [Medline].

  5. Vrticka K. Present-day importance of the velocardiofacial syndrome. To commemorate the late prof. Eva sedlackova, MD, on the 50th anniversary of her original publication. Folia Phoniatr Logop. 2007;50:141-6. [Medline].

  6. Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev. 2008;14(1):11-8. [Medline].

  7. De Smedt B, Devriendt K, Fryns JP, Vogels A, Gewillig M, Swillen A. Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. J Intellect Disabil Res. 2007;51:666-70. [Medline].

  8. Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev. 2008;14:3-10. [Medline].

  9. Jawad AF, McDonald-Mcginn DM, Zackai E, et al. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. Nov 2001;139(5):715-23. [Medline].

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  31. Wulfsberg EA, Leana-Cox J, Neri G. What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes. Am J Med Genet. Nov 11 1996;65(4):317-9. [Medline].

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Further Reading

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Keywords

DiGeorge syndrome, DGS, DiGeorge association, DGA, chromosome 22q11.2 deletion syndrome, CATCH 22, cardiac anomalies, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia on chromosome 22, congenital cardiac anomalies, craniofacial dysmorphology, learning dysfunction, velocardiofacial syndrome, VCFS, conotruncal anomalies face syndrome, CTAF syndrome, CTAF, Shprintzen syndrome, Opitz G/BBB (dominant type), Sedlackova syndrome, hypoparathyroidism

failure to thrive, tetralogy of Fallot, truncus arteriosus, interrupted aortic arch, ventricular septal defect, VSD, pulmonary atresia, coarctation of the aorta, atrial septal defect, ASD, pulmonary stenosis, hypoplastic left heart, patent ductus arteriosus, transposition of great arteries, microcephaly, velopharyngeal incompetence, VPI, otitis media, hearing loss, severe combined immunodeficiency, hypogammaglobulinemia, juvenile rheumatoid arthritis, JRA, idiopathic thrombocytopenic purpura, ITP, autoimmune hemolytic anemia, AHA, attention deficit disorder, autism, depression, bipolar disorders, schizophrenia, anxiety

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Contributor Information and Disclosures

Author

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Medical Editor

C Lucy Park, MD, Director, Allergy and Asthma Center, Associate Professor, Department of Pediatrics, University of Illinois at Chicago
C Lucy Park, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Medical Association, Clinical Immunology Society, and Illinois State Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

John Wilson Georgitis, MD, Consulting Staff, Lafayette Allergy Services
John Wilson Georgitis, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American College of Chest Physicians, American Lung Association, American Medical Writers Association, and American Thoracic Society
Disclosure: Nothing to disclose.

CME Editor

David Pallares, MD, Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville
David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology
Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD, Associate Professor, Division of Pulmonary Allergy/Immunology and Infectious Diseases, Department of Pediatrics, UMDNJ-New Jersey Medical School
Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

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