DiGeorge Syndrome

"DiGeorge Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

Descriptor ID	D004062
MeSH Number(s)	C05.660.207.103.500 C14.240.400.021.500 C14.280.400.044.500 C15.604.451.249.500 C16.131.077.019.500 C16.131.240.400.021.500 C16.131.260.019.500 C16.131.482.249.500 C16.131.621.207.103.500 C16.320.180.019.500 C19.642.482.500.500
Concept/Terms	DiGeorge Syndrome DiGeorge Syndrome Syndrome, DiGeorge DiGeorge Sequence Familial Third and Fourth Pharyngeal Pouch Syndrome Autosomal Dominant Opitz G-Bbb Syndrome Autosomal Dominant Opitz G Bbb Syndrome Pharyngeal Pouch Syndrome Third and Fourth Pharyngeal Pouch Syndrome Thymic Aplasia Syndrome Catch22 DiGeorge Anomaly Hypoplasia of Thymus and Parathyroids Velocardiofacial Syndrome Velocardiofacial Syndrome Syndrome, Velocardiofacial Sedlackova Syndrome Syndrome, Sedlackova Shprintzen Syndrome Syndrome, Shprintzen 22q11.2DS VCF Syndrome Syndrome, VCF Velo-Cardio-Facial Syndrome Syndrome, Velo-Cardio-Facial Velo Cardio Facial Syndrome Deletion 22q11.2 Syndrome 22q11.2 Deletion Syndrome Deletion Syndrome, 22q11.2 Shprintzen VCF Syndrome Conotruncal Anomaly Face Syndrome Conotruncal Anomaly Face Syndrome Conotruncal Anomaly Face Syndrome (CTAF)

Below are MeSH descriptors whose meaning is more general than "DiGeorge Syndrome".

Diseases [C]
Musculoskeletal Diseases [C05]
Musculoskeletal Abnormalities [C05.660]
Craniofacial Abnormalities [C05.660.207]
22q11 Deletion Syndrome [C05.660.207.103]
DiGeorge Syndrome [C05.660.207.103.500]
Cardiovascular Diseases [C14]
Cardiovascular Abnormalities [C14.240]
Heart Defects, Congenital [C14.240.400]
22q11 Deletion Syndrome [C14.240.400.021]
DiGeorge Syndrome [C14.240.400.021.500]
Heart Diseases [C14.280]
Heart Defects, Congenital [C14.280.400]
22q11 Deletion Syndrome [C14.280.400.044]
DiGeorge Syndrome [C14.280.400.044.500]
Hemic and Lymphatic Diseases [C15]
Lymphatic Diseases [C15.604]
Lymphatic Abnormalities [C15.604.451]
22q11 Deletion Syndrome [C15.604.451.249]
DiGeorge Syndrome [C15.604.451.249.500]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
22q11 Deletion Syndrome [C16.131.077.019]
DiGeorge Syndrome [C16.131.077.019.500]
Cardiovascular Abnormalities [C16.131.240]
Heart Defects, Congenital [C16.131.240.400]
22q11 Deletion Syndrome [C16.131.240.400.021]
DiGeorge Syndrome [C16.131.240.400.021.500]
Chromosome Disorders [C16.131.260]
22q11 Deletion Syndrome [C16.131.260.019]
DiGeorge Syndrome [C16.131.260.019.500]
Lymphatic Abnormalities [C16.131.482]
22q11 Deletion Syndrome [C16.131.482.249]
DiGeorge Syndrome [C16.131.482.249.500]
Musculoskeletal Abnormalities [C16.131.621]
Craniofacial Abnormalities [C16.131.621.207]
22q11 Deletion Syndrome [C16.131.621.207.103]
DiGeorge Syndrome [C16.131.621.207.103.500]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
22q11 Deletion Syndrome [C16.320.180.019]
DiGeorge Syndrome [C16.320.180.019.500]
Endocrine System Diseases [C19]
Parathyroid Diseases [C19.642]
Hypoparathyroidism [C19.642.482]
22q11 Deletion Syndrome [C19.642.482.500]
DiGeorge Syndrome [C19.642.482.500.500]

Below are MeSH descriptors whose meaning is related to "DiGeorge Syndrome".

Below are MeSH descriptors whose meaning is more specific than "DiGeorge Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "DiGeorge Syndrome" by people in this website by year, and whether "DiGeorge Syndrome" was a major or minor topic of these publications.

Bar chart showing 9 publications over 6 distinct years, with a maximum of 3 publications in 2018

To see the data from this visualization as text, click here.

Year	Major Topic	Total
1997	2	2
2013	1	1
2014	1	1
2017	1	1
2018	3	3
2023	1	1

Below are the most recent publications written about "DiGeorge Syndrome" by people in Profiles.

?skarsd?ttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 03; 25(3):100338.

View in: PubMed
Hopkins SE, Chadehumbe M, Blaine Crowley T, Zackai EH, Bilaniuk LT, McDonald-McGinn DM. Neurologic challenges in 22q11.2 deletion syndrome. Am J Med Genet A. 2018 10; 176(10):2140-2145.

View in: PubMed
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A. 2018 10; 176(10):2058-2069.

View in: PubMed
Moberg PJ, Richman MJ, Roalf DR, Morse CL, Graefe AC, Brennan L, Vickers K, Tsering W, Kamath V, Turetsky BI, Gur RC, Gur RE. Neurocognitive Functioning in Patients with 22q11.2 Deletion Syndrome: A Meta-Analytic Review. Behav Genet. 2018 07; 48(4):259-270.

View in: PubMed
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A. 2017 Apr; 173(4):879-888.

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O'Byrne ML, Yang W, Mercer-Rosa L, Parnell AS, Oster ME, Levenbrown Y, Tanel RE, Goldmuntz E. 22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch. J Thorac Cardiovasc Surg. 2014 Oct; 148(4):1597-605.

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Cordovez JA, Capasso J, Lingao MD, Sadagopan KA, Spaeth GL, Wasserman BN, Levin AV. Ocular manifestations of 22q11.2 microduplication. Ophthalmology. 2014 Jan; 121(1):392-398.

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DePiero AD, Lourie EM, Berman BW, Robin NH, Zinn AB, Hostoffer RW. Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. J Pediatr. 1997 Sep; 131(3):484-6.

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Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum. 1997 Mar; 40(3):430-6.

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Gidding SS, Minciotti AL, Langman CB. Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate. N Engl J Med. 1988 Dec 15; 319(24):1589-91.

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