DiGeorge Syndrome Treatment & Management
- Author: Erawati V Bawle, MD, FAAP, FACMG; Chief Editor: Harumi Jyonouchi, MD more...
Medical Care
A multidisciplinary team best cares for these individuals; however, one physician (usually the primary physician) needs to take the lead and provide a medical home for the patient. The primary physician must monitor growth and development. A system-by-system approach gives the best results.
- Cardiac: Consult cardiologist as needed.
- Immunologist: Consult an immunologist if absolute lymphopenia is present. Follow the immunologist's recommendations for immunizations. Recent reports indicate that patients with DiGeorge syndrome (DGS) who are clinically stable can safely tolerate live vaccines, including the measles, mumps, and rubella (MMR) and varicella vaccine.
- Endocrine: If the patient is found to be hypocalcemic, begin calcium supplementation after proper tests (simultaneous serum calcium and serum parathyroid hormone levels) are obtained. Vitamin D supplementation may become necessary.
- Failure to thrive: Feeding difficulties and failure to thrive are common in these patients, especially in those with significant cleft palates. Occasionally, placement of a nasogastric or gastrostomy tube is necessary for feeding during the first 6-12 months of life. The tube provides adequate nutrition to prevent serious growth failure.
- Other problems: Patients with other conditions, including developmental delay and psychosis, should receive appropriate care.
Surgical Care
- Cardiac: Surgical repair is often necessary to correct the frequently observed cardiac defects.
- Head and neck: As patients with chromosome 22q11.2 deletion syndrome grow older, correction of hypernasal speech becomes important; this can be performed initially with speech therapy but surgery may be required. Consult a plastic surgeon experienced in treating velopharyngeal incompetence (VPI). Cleft palate, if present, can be repaired as well. Adenoidectomy may worsen the VPI.
Consultations
Multidisciplinary follow-up care is usually necessary to ensure that these patients receive optimal medical care; the following specialists can be consulted:
- Geneticist for initial evaluation and genetic counseling: Periodic follow-up consultations are recommended to apprise the family of new developments, to reinforce the counseling and recurrence risk assessment, and to direct the family to resources in the community.
- Pediatric cardiologist for evaluation and management of cardiac disease
- Pediatric cardiothoracic surgeons when patient requires cardiac surgery
- Craniofacial specialist for treatment of patients with cleft palate and feeding difficulties
- Otolaryngologist when recurrent otitis media occurs
- Immunologist for evaluation of immune function
- Pediatric endocrinologist for evaluation and management of hypocalcemia
- Psychologist and other specialists based on the organ system involved
Diet
No special diet is indicated. Tube feeding may be indicated when feeding problems are severe.
Activity
Activity restrictions depend on the nature and severity of the cardiac defect.
Kinouchi A, Mori K, et al. Facial Appearance of Patients with Conotruncal Anomalies. Pediatr Jpn. 1976;17:84-7.
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].
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].
Sedlackova E. [Insufficiency of palatolaryngeal passage as a developmental disorder.]. Cas Lek Cesk. Nov 25 1955;94(47-48):1304-7. [Medline].
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].
Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev. 2008;14(1):11-8. [Medline].
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].
Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev. 2008;14:3-10. [Medline].
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].
[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].
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].
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].
Lacy CF, Armstrong LL, Goldman MP, Lance LL, eds. Drug Information Handbook. Cleveland, OH: Lexi-Comp, Inc; 2000-2001.
Goldsobel AB, Haas A, Stiehm ER. Bone marrow transplantation in DiGeorge syndrome. J Pediatr. Jul 1987;111(1):40-4. [Medline].
Greenberg F. DiGeorge syndrome: an historical review of clinical and cytogenetic features. J Med Genet. Oct 1993;30(10):803-6. [Medline].
Hong R. The DiGeorge anomaly. Clin Rev Allergy Imunol. 2001;20(1):43-60.
Hong R. The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). Semin Hematol. Oct 1998;35(4):282-90. [Medline].
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].
Kim MS, Basson CT. Wrapping up DiGeorge syndrome in a T-box?. Pediatr Res. Sep 2001;50(3):307-8. [Medline].
Kirkpatrick JA Jr, DiGeorge AM. Congenital absence of the thymus. Am J Roentgenol Radium Ther Nucl Med. May 1968;103(1):32-7. [Medline].
Lammer EJ, Opitz JM. The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl. 1986;2:113-27. [Medline].
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].
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].
Oskarsdottir S, Persson C, Eriksson BO. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164:146-53. [Medline].
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].
Robin RH, Shprintzen RJ. Defining The Clinical Spectrum of Deletion 22q11.2. J of Pediatrics. 2005;147:90-6. [Medline].
Schwartz SA. Intravenous immunoglobulin treatment of immunodeficiency disorders. Pediatr Clin North Am. Dec 2000;47(6):1355-69. [Medline].
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].
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].
Towbin JA, Casey B, Belmont J. The molecular basis of vascular disorders. Am J Hum Genet. Mar 1999;64(3):678-84. [Medline].
Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet. Oct 1993;30(10):852-6. [Medline].
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].

