Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatmentPreventionCoping
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
Prevention
Coping
DiGeorge syndrome is a rare genetic disorder caused when a small part ofchromosome22 is missing. The symptoms of DiGeorge syndrome can vary both in severity and types. Some signs may be apparent at birth, such as cleft palate or a congenital heart defect, whereas others may only be noticed in later childhood.
Unlike other disorders associated with chromosome 22 (like Emanuel syndrome andtrisomy 22), children born with DiGeorge syndrome may not have distinctive facial features at birth. As such, the disorder may only be diagnosed when there are obvious developmental delays, breathing problems, or heart problems occur later in life.
Although there is no cure for DiGeorge syndrome, there are various treatments that can help manage the symptoms.With treatment, life expectancy may be normal. Depending on the severity of the disorder, some children will be able to attend regular school and have children of their own.
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The features of DiGeorge syndrome can vary enormously, even among family members diagnosed with the disorder. Common signs and symptoms include:
Since DiGeorge syndrome commonly affects thethymus glandwhere immune cells (known as T-cells) are produced, people with the disorder often have poor immune function and are prone to frequent, severe infections. This also places them at greater risk of autoimmune disorders, including rheumatoid arthritis,Grave’s disease, and autoimmunehemolytic anemia.
In terms of cognitive functioning, children with DiGeorge syndrome usually have below-normal IQs but can often attend regular school or special education classes.
As adults, people with DiGeorge are at an increased risk of psychiatric problems, with 40% having psychotic symptoms or schizophrenia.
DiGeorge syndrome, more accurately known as 22q11.2 deletion syndrome, is caused when portions of chromosome 22 (known asgenes) are missing.
Everyone has two copies of chromosome 22, one inherited from each parent. With DiGeorge syndrome, anywhere from 30 to 40 genes will be missing.
The range and severity of symptoms are largely dependant on the types of genes deleted.
DiGeorge syndrome is classified as an autosomal dominant disorder, meaning that only one of the two chromosomes need to be affected for symptoms to develop. In around 90% of cases, the deletion will occur spontaneously during the early stages of fetal development.About 10% will be inherited from the genetic material of one parent.
DiGeorge syndrome is rare, affecting only one of every 4,000 children.The chances of a person with DiGeorge syndrome having an affected child is 50% for each pregnancy. While some people are only moderately affected, nearly everyone with DiGeorge syndrome will require treatment from a variety of medical specialists.
DiGeorge syndrome is typically diagnosed at birth or soon after birth based on the signs and symptoms of the disorder.Genetic testingcan then be performed to confirm deletions on chromosome 22.
In some children, all of the classical features of DiGeorge syndrome will be seen at birth. In others, the presentation may be subtle and only be recognized when an impairment, either physical or development, become apparent.
Due to the variability of symptoms, genetic testing must be performed to confirm the diagnosis. This can be tricky since the pattern of deletions can often be so different, even between family members. The most reliable forms of genetic testing include:
The tests look at a specific portion of chromosome 22 called position 22q11.2. They only require a blood sample and are 95% accurate. Test results are usually returned within three to 14 days.
Other tests can be used for prenatal or postnatal screening, including array-comparative genomic hybridization (array-CGH), a test which can scan the entire genome of fetal cells and deliver results within five days.
There is no cure for DiGeorge syndrome.However, there are treatments available to address the various aspects of the disorder. The key is to identify and address each symptom under the care of a coordinatingphysician.
The care team may include specialists in maternal and fetal medicine, pediatrics, cardiothoracic surgery, learning disabilities, endocrinology, immunology, speech pathology, and audiology. A geneticist and genetic counselor are key members of the team.
Depending on the symptomatic presentation of the disease, various treatments may be prescribed for the following conditions:
However, many of the characteristic symptoms tend to resolve or become manageable over time with appropriate treatment. Others, particularly mental health issues, may develop and worsen over time—particularly those involving psychosis and schizophrenia. Early identification and intervention can greatly reduce the impact of these conditions.
Unlike some chromosomal deletions disorders, DiGeorge syndrome is not inherently associated with a shortened life span. Many people can live long, healthy lives and even have children.
Given that only around 10% of cases are directly associated with familial inheritance, this is more difficult than it seems.
As such, efforts are less focused on primary prevention (preventing disease before it occurs) and more on secondary prevention (preempting symptoms and complications once a disease is diagnosed). To this end, genetic testing is recommended for people whose child has been positively diagnosed with DiGeorge syndrome.
Overall, more severe cardiac, parathyroid, and thymus-related diseases are seen in children for whom a relative has a 22q11.2 deletion.
Having a child with DiGeorge syndrome can be challenging. As a parent or guardian, you may need to manage multiple treatment issues with multiple providers while addressing the needs of your child. Moreover, you would need to manage your own expectations for a disorder that has no clear course. This can cause enormous stress in parents or guardians who are often teetering between hope and setbacks.
There is even a growing number of specialty clinics dedicated to children with DiGeorge syndrome.They include the22q Clinic at Phoenix Children’s Hospital, the22q Deletion Clinic at the SickKids Hospitalin Toronto, and the 22q Children’s Clinic at Massachusetts General Hospital in Boston.
A Word From Verywell
If you are unable to cope, try not to suffer in silence. Instead, ask a healthcare provider for a referral to a therapist experienced in working with families with disabilities. In some cases, one-on-one counseling and potentially prescription medications can help you overcome feelings of hopeless, depression, and anxiety.
You may benefit from mind-body therapies aimed at reducing stress, including meditation, guided imagery, mindful breathing, and progressive muscle relaxation (PMR). By taking care of yourself, you will be better able to take care of others.
Types of Cleft Palates
20 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.22q11.2 deletion syndrome. Genetics Home Reference. US National Library of Medicine. 2019.22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Diagnosis & Treatment. Boston Children’s Hospital.Balaji SM.Modified facial bipartition.Ann Maxillofac Surg. 2012;2(2):170-3. doi:10.4103/2231-0746.101348Korpaisarn S, Trachoo O, Sriphrapradang C.Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial features.Case Rep Endocrinol. 2013. doi:10.1155/2013/802793Tang KL, Antshel KM, Fremont WP, Kates WR.Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.J Dev Behav Pediatr. 2015;36(8):639-50. doi:10.1097/DBP.0000000000000210Lopez-rivera E, Liu YP, Verbitsky M, et al.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.N Engl J Med. 2017;376(8):742-754. doi:10.1056/NEJMoa1609009Wither RG, Borlot F, Macdonald A, et al.22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.Epilepsia. 2017;58(6):1095-1101. doi:10.1111/epi.13748Reilly C, Stedman L.Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome.British Journal of Learning Support. 2013;(28)3. doi:10.1111/1467-9604.12029Kraus C, Vanicek T, Weidenauer A, et al.DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients.Wien Klin Wochenschr. 2018;130(7-8):283-287. doi:10.1007/s00508-018-1335-y22q11.2 Deletion Syndrome in Children. Stanford Children’s Health.22q11.2 Deletion Disorders (DiGeorge Syndrome and Velocardiofacial Syndrome). American Heart Association. 2016.Saxena S, Gowdhaman K, Kkani P, et al.Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection.Clin Chim Acta. 2015;450:19-24. doi:10.1016/j.cca.2015.07.028Huber J, Peres VC, De castro AL, et al.Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.Pediatr Cardiol. 2014;35(8):1356-62. doi:10.1007/s00246-014-0936-0Congenital heart defect - corrective surgery. US National Library of Medicine. 2019.Moon H, Seok JW, Kim K, et al.Effectiveness of prophylactic calcium and vitamin D supplementation for preventing post-thyroidectomy hypocalcemia: a meta-analysis.KMJ. 2022;37(3):213-219.Markert ML, Devlin BH, Mccarthy EA.Thymus transplantation.Clin Immunol. 2010;135(2):236-46. doi:10.1016/j.clim.2010.02.007Vo OK, Mcneill A, Vogt KS.The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.Am J Med Genet A. 2018;176(10):2215-2225. doi:10.1002/ajmg.a.38673Hui L.Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening.Ultrasound Obstet Gynecol. 2016;47(2):137-41. doi:10.1002/uog.15845DiGeorge Syndrome. University of Rochester Medical Center.List of 22Q Clinics. 22Q Family Foundation.Additional ReadingFung, W.; Butcher, N.; Costain, G. et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome.Genet Med.2015 Aug;17(8):599-609. DOI:10.1038/gim.2014.175McDonald-McGinn, D. and Sullivan, K. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Medicine.2011 Jan;90(1):1-18. DOI:10.1097/MD.0b013e3182060469
20 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.22q11.2 deletion syndrome. Genetics Home Reference. US National Library of Medicine. 2019.22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Diagnosis & Treatment. Boston Children’s Hospital.Balaji SM.Modified facial bipartition.Ann Maxillofac Surg. 2012;2(2):170-3. doi:10.4103/2231-0746.101348Korpaisarn S, Trachoo O, Sriphrapradang C.Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial features.Case Rep Endocrinol. 2013. doi:10.1155/2013/802793Tang KL, Antshel KM, Fremont WP, Kates WR.Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.J Dev Behav Pediatr. 2015;36(8):639-50. doi:10.1097/DBP.0000000000000210Lopez-rivera E, Liu YP, Verbitsky M, et al.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.N Engl J Med. 2017;376(8):742-754. doi:10.1056/NEJMoa1609009Wither RG, Borlot F, Macdonald A, et al.22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.Epilepsia. 2017;58(6):1095-1101. doi:10.1111/epi.13748Reilly C, Stedman L.Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome.British Journal of Learning Support. 2013;(28)3. doi:10.1111/1467-9604.12029Kraus C, Vanicek T, Weidenauer A, et al.DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients.Wien Klin Wochenschr. 2018;130(7-8):283-287. doi:10.1007/s00508-018-1335-y22q11.2 Deletion Syndrome in Children. Stanford Children’s Health.22q11.2 Deletion Disorders (DiGeorge Syndrome and Velocardiofacial Syndrome). American Heart Association. 2016.Saxena S, Gowdhaman K, Kkani P, et al.Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection.Clin Chim Acta. 2015;450:19-24. doi:10.1016/j.cca.2015.07.028Huber J, Peres VC, De castro AL, et al.Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.Pediatr Cardiol. 2014;35(8):1356-62. doi:10.1007/s00246-014-0936-0Congenital heart defect - corrective surgery. US National Library of Medicine. 2019.Moon H, Seok JW, Kim K, et al.Effectiveness of prophylactic calcium and vitamin D supplementation for preventing post-thyroidectomy hypocalcemia: a meta-analysis.KMJ. 2022;37(3):213-219.Markert ML, Devlin BH, Mccarthy EA.Thymus transplantation.Clin Immunol. 2010;135(2):236-46. doi:10.1016/j.clim.2010.02.007Vo OK, Mcneill A, Vogt KS.The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.Am J Med Genet A. 2018;176(10):2215-2225. doi:10.1002/ajmg.a.38673Hui L.Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening.Ultrasound Obstet Gynecol. 2016;47(2):137-41. doi:10.1002/uog.15845DiGeorge Syndrome. University of Rochester Medical Center.List of 22Q Clinics. 22Q Family Foundation.Additional ReadingFung, W.; Butcher, N.; Costain, G. et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome.Genet Med.2015 Aug;17(8):599-609. DOI:10.1038/gim.2014.175McDonald-McGinn, D. and Sullivan, K. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Medicine.2011 Jan;90(1):1-18. DOI:10.1097/MD.0b013e3182060469
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
22q11.2 deletion syndrome. Genetics Home Reference. US National Library of Medicine. 2019.22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Diagnosis & Treatment. Boston Children’s Hospital.Balaji SM.Modified facial bipartition.Ann Maxillofac Surg. 2012;2(2):170-3. doi:10.4103/2231-0746.101348Korpaisarn S, Trachoo O, Sriphrapradang C.Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial features.Case Rep Endocrinol. 2013. doi:10.1155/2013/802793Tang KL, Antshel KM, Fremont WP, Kates WR.Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.J Dev Behav Pediatr. 2015;36(8):639-50. doi:10.1097/DBP.0000000000000210Lopez-rivera E, Liu YP, Verbitsky M, et al.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.N Engl J Med. 2017;376(8):742-754. doi:10.1056/NEJMoa1609009Wither RG, Borlot F, Macdonald A, et al.22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.Epilepsia. 2017;58(6):1095-1101. doi:10.1111/epi.13748Reilly C, Stedman L.Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome.British Journal of Learning Support. 2013;(28)3. doi:10.1111/1467-9604.12029Kraus C, Vanicek T, Weidenauer A, et al.DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients.Wien Klin Wochenschr. 2018;130(7-8):283-287. doi:10.1007/s00508-018-1335-y22q11.2 Deletion Syndrome in Children. Stanford Children’s Health.22q11.2 Deletion Disorders (DiGeorge Syndrome and Velocardiofacial Syndrome). American Heart Association. 2016.Saxena S, Gowdhaman K, Kkani P, et al.Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection.Clin Chim Acta. 2015;450:19-24. doi:10.1016/j.cca.2015.07.028Huber J, Peres VC, De castro AL, et al.Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.Pediatr Cardiol. 2014;35(8):1356-62. doi:10.1007/s00246-014-0936-0Congenital heart defect - corrective surgery. US National Library of Medicine. 2019.Moon H, Seok JW, Kim K, et al.Effectiveness of prophylactic calcium and vitamin D supplementation for preventing post-thyroidectomy hypocalcemia: a meta-analysis.KMJ. 2022;37(3):213-219.Markert ML, Devlin BH, Mccarthy EA.Thymus transplantation.Clin Immunol. 2010;135(2):236-46. doi:10.1016/j.clim.2010.02.007Vo OK, Mcneill A, Vogt KS.The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.Am J Med Genet A. 2018;176(10):2215-2225. doi:10.1002/ajmg.a.38673Hui L.Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening.Ultrasound Obstet Gynecol. 2016;47(2):137-41. doi:10.1002/uog.15845DiGeorge Syndrome. University of Rochester Medical Center.List of 22Q Clinics. 22Q Family Foundation.
22q11.2 deletion syndrome. Genetics Home Reference. US National Library of Medicine. 2019.
22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Diagnosis & Treatment. Boston Children’s Hospital.
Balaji SM.Modified facial bipartition.Ann Maxillofac Surg. 2012;2(2):170-3. doi:10.4103/2231-0746.101348
Korpaisarn S, Trachoo O, Sriphrapradang C.Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial features.Case Rep Endocrinol. 2013. doi:10.1155/2013/802793
Tang KL, Antshel KM, Fremont WP, Kates WR.Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.J Dev Behav Pediatr. 2015;36(8):639-50. doi:10.1097/DBP.0000000000000210
Lopez-rivera E, Liu YP, Verbitsky M, et al.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.N Engl J Med. 2017;376(8):742-754. doi:10.1056/NEJMoa1609009
Wither RG, Borlot F, Macdonald A, et al.22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.Epilepsia. 2017;58(6):1095-1101. doi:10.1111/epi.13748
Reilly C, Stedman L.Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome.British Journal of Learning Support. 2013;(28)3. doi:10.1111/1467-9604.12029
Kraus C, Vanicek T, Weidenauer A, et al.DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients.Wien Klin Wochenschr. 2018;130(7-8):283-287. doi:10.1007/s00508-018-1335-y
22q11.2 Deletion Syndrome in Children. Stanford Children’s Health.
22q11.2 Deletion Disorders (DiGeorge Syndrome and Velocardiofacial Syndrome). American Heart Association. 2016.
Saxena S, Gowdhaman K, Kkani P, et al.Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection.Clin Chim Acta. 2015;450:19-24. doi:10.1016/j.cca.2015.07.028
Huber J, Peres VC, De castro AL, et al.Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.Pediatr Cardiol. 2014;35(8):1356-62. doi:10.1007/s00246-014-0936-0
Congenital heart defect - corrective surgery. US National Library of Medicine. 2019.
Moon H, Seok JW, Kim K, et al.Effectiveness of prophylactic calcium and vitamin D supplementation for preventing post-thyroidectomy hypocalcemia: a meta-analysis.KMJ. 2022;37(3):213-219.
Markert ML, Devlin BH, Mccarthy EA.Thymus transplantation.Clin Immunol. 2010;135(2):236-46. doi:10.1016/j.clim.2010.02.007
Vo OK, Mcneill A, Vogt KS.The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.Am J Med Genet A. 2018;176(10):2215-2225. doi:10.1002/ajmg.a.38673
Hui L.Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening.Ultrasound Obstet Gynecol. 2016;47(2):137-41. doi:10.1002/uog.15845
DiGeorge Syndrome. University of Rochester Medical Center.
List of 22Q Clinics. 22Q Family Foundation.
Fung, W.; Butcher, N.; Costain, G. et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome.Genet Med.2015 Aug;17(8):599-609. DOI:10.1038/gim.2014.175McDonald-McGinn, D. and Sullivan, K. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Medicine.2011 Jan;90(1):1-18. DOI:10.1097/MD.0b013e3182060469
Fung, W.; Butcher, N.; Costain, G. et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome.Genet Med.2015 Aug;17(8):599-609. DOI:10.1038/gim.2014.175
McDonald-McGinn, D. and Sullivan, K. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Medicine.2011 Jan;90(1):1-18. DOI:10.1097/MD.0b013e3182060469
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