DiGeorge Syndrome Follow-up

  • Author: Erawati V Bawle, MD, FAAP, FACMG; Chief Editor: Harumi Jyonouchi, MD   more...
 
Updated: May 15, 2012
 

Further Outpatient Care

A draft of consensus guidelines for follow up were developed and finalized in 2010 at the International 22q11DS Meeting[15] for use by the international community. A summary is outlined in the Medical Care section of this article.

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Deterrence/Prevention

Evaluation by a clinical geneticist and genetic counsellor is recommended prior to making family-planning decisions.

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Prognosis

Prognosis for DiGeorge syndrome (DGS) varies widely. It largely depends on the nature and degree of involvement of different organs. Many adults live long, productive lives.

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Patient Education

Given the frequent learning disabilities observed in these children, they should undergo early developmental assessment and be enrolled in an early education program to help offset the expected educational delays. Such interventions have proven effective both academically and socially.

Genetic counseling is essential to educate regarding recurrence risk.

The families of patients with clinically significant immunodeficiency should be educated regarding the potential complications from exposure to live-attenuated poliovirus vaccine, MMR vaccine, and chicken pox vaccine.

Patients' families often feel alone when this diagnosis is made. Because of its rarity, most parents have not heard of the syndrome, nor do they know anyone who has it to whom they can turn to for support. Support groups and other resources are an invaluable help in this regard. Many written educational materials are available through various organizations. The following are some support groups and resources:

The International 22q11.2 Deletion Syndrome Foundation, Inc

P.O. Box 424

Matawan, New Jersey 07747 USA

Telephone: 877-739-1849; email: info@22q.org

Max Appeal

15 Meriden Avenue

Wollaston, Stourbridge; West Midlands; DY8 4QN UK

Telephone: 0800-389-1049; email: info@maxappeal.org.uk

National Library of Medicine Genetics Home Reference: 22q11.2 deletion syndrome

NCBI Genes and Disease: DiGeorge syndrome

Velo-Cardio-Facial Syndrome Education Foundation

PO Box 12591, Dallas, TX 75225, USA

Telephone 1-855-800 VCFSEF (823733); Outside USA 1-214-763-7388; email: info@vcfsef.org

Chromosome 22 Central

Phone/fax: 705-268-3099; email: steph.stpierre@gmail.com

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Contributor Information and Disclosures
Author

Erawati V Bawle, MD, FAAP, FACMG  Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

C Lucy Park  MD, Head, Division of Allergy, Immunology, and Pulmonology, Associate Professor, Department of Pediatrics, University of Illinois at Chicago College of Medicine

C Lucy Park is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Medical Association, Chicago Medical Society, Clinical Immunology Society, and Illinois State Medical Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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.

David Pallares, MD  Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville School of Medicine

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, University of Medicine and Dentistry of New Jersey-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.

Additional Contributors

The author and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Daniel AC Frattarelli, MD, FAAP, to the development and writing of this article.

References

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

  2. 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].

  3. Kinouchi A, Mori K, et al. Facial Appearance of Patients with Conotruncal Anomalies. Pediatr Jpn. 1976;17:84-7.

  4. 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].

  5. 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].

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

  7. [Best Evidence] Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H. Tbx1 regulates oral epithelial adhesion and palatal development. Hum Mol Genet. Mar 8 2012;[Medline].

  8. 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].

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

  10. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). Jan 2011;90(1):1-18. [Medline].

  11. 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].

  12. Furniss F, Biswas AB, Gumber R, Singh N. Cognitive phenotype of velocardiofacial syndrome: a review. Res Dev Disabil. Nov-Dec 2011;32(6):2206-13. [Medline].

  13. Antshel KM, Shprintzen R, Fremont W, Higgins AM, Faraone SV, Kates WR. Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study. J Am Acad Child Adolesc Psychiatry. Apr 2010;49(4):333-44. [Medline].

  14. [Best Evidence] Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt A 3rd, Butler MG, et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res. 2009;124(2):113-20. [Medline].

  15. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. Aug 2011;159(2):332-9.e1. [Medline]. [Full Text].

  16. Ammann AJ, Wara DW, Cowan MJ, Barrett DJ, Stiehm ER. The DiGeorge syndrome and the fetal alcohol syndrome. Am J Dis Child. Oct 1982;136(10):906-8. [Medline].

  17. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet. May 1992;50(5):924-33. [Medline].

  18. Lacy CF, Armstrong LL, Goldman MP, Lance LL, eds. Drug Information Handbook. Cleveland, OH: Lexi-Comp, Inc; 2000-2001.

  19. Goldsobel AB, Haas A, Stiehm ER. Bone marrow transplantation in DiGeorge syndrome. J Pediatr. Jul 1987;111(1):40-4. [Medline].

  20. Greenberg F. DiGeorge syndrome: an historical review of clinical and cytogenetic features. J Med Genet. Oct 1993;30(10):803-6. [Medline].

  21. Hong R. The DiGeorge anomaly. Clin Rev Allergy Imunol. 2001;20(1):43-60.

  22. Hong R. The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). Semin Hematol. Oct 1998;35(4):282-90. [Medline].

  23. Keppen LD, Fasules JW, Burks AW, et al. Confirmation of autosomal dominant transmission of the DiGeorge malformation complex. J Pediatr. Sep 1988;113(3):506-8. [Medline].

  24. Kim MS, Basson CT. Wrapping up DiGeorge syndrome in a T-box?. Pediatr Res. Sep 2001;50(3):307-8. [Medline].

  25. Kirkpatrick JA Jr, DiGeorge AM. Congenital absence of the thymus. Am J Roentgenol Radium Ther Nucl Med. May 1968;103(1):32-7. [Medline].

  26. Lammer EJ, Opitz JM. The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl. 1986;2:113-27. [Medline].

  27. Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. Oct 14 1999;341(16):1180-9. [Medline].

  28. McDonald-McGinn DM, Driscoll DA, Emanuel BS, et al. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics. May 1997;99(5):E9. [Medline].

  29. Oskarsdottir S, Persson C, Eriksson BO. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164:146-53. [Medline].

  30. Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. Feb 1 2004;103(3):1020-5. [Medline].

  31. Robin RH, Shprintzen RJ. Defining The Clinical Spectrum of Deletion 22q11.2. J of Pediatrics. 2005;147:90-6. [Medline].

  32. Schwartz SA. Intravenous immunoglobulin treatment of immunodeficiency disorders. Pediatr Clin North Am. Dec 2000;47(6):1355-69. [Medline].

  33. Thampakkul S, Ballow M. Replacement intravenous immune serum globulin therapy in patients with antibody immune deficiency. Immunol Aller Clin North Am. 2001;21(1):165-84. [Full Text].

  34. Thomas JA, Graham JM Jr. Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). May 1997;36(5):253-66. [Medline].

  35. Towbin JA, Casey B, Belmont J. The molecular basis of vascular disorders. Am J Hum Genet. Mar 1999;64(3):678-84. [Medline].

  36. Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet. Oct 1993;30(10):852-6. [Medline].

  37. 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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Mother and children with 22q11.2 deletion syndrome.
An African American girl with 22q11.2 deletion syndrome.
The same girl in previous image showing an asymmetric crying face.
 
 
 
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