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.
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
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| 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
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| 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
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Below are MeSH descriptors whose meaning is more general than "DiGeorge Syndrome".
Below are MeSH descriptors whose meaning is more specific than "DiGeorge Syndrome".
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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2022 | 4 | 0 | 4 | | 2023 | 4 | 0 | 4 | | 2024 | 1 | 1 | 2 | | 2025 | 1 | 0 | 1 |
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Below are the most recent publications written about "DiGeorge Syndrome" by people in Profiles.
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Khalifee D, Brown HJ, Arganbright J, Khalifee E. Prevalence of cholesteatoma in children with 22q11.2 deletion syndrome. Int J Pediatr Otorhinolaryngol. 2025 Jun; 193:112332.
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Arganbright J, Crowley TB, Tracy M, Noel-MacDonnell J, Gaiser K, Yaktine L, Moore A, Hamm J, Morrow B, Song H, Giunta V, McGinn DE, Zackai EH, Emanuel B, Elden L, Narayanan S, Raje N, McDonald-McGinn DM. Hearing Loss in Children with 22q11.2 Deletion Syndrome. Laryngoscope. 2025 Feb; 135(2):929-934.
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Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Ara?jo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA, Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 05 03; 384(6695):584-590.
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Ingram DG, Tracy M, Noel-MacDonnell J, Ghulmiyyah JM, Arganbright JM. Polysomnographic findings in children with 22q deletion & duplication syndrome: relationship to genetic diagnosis, parent-reported symptoms, and calcium levels. Sleep Breath. 2024 03; 28(1):489-494.
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Boot E, ?skarsd?ttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 03; 25(3):100344.
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?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.
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Pattisapu P, Kinter S, Bly RA, Dahl JP, Perkins JA, Wang X, Sie KCY. Sphincter Pharyngoplasty for Velopharyngeal Dysfunction: Impact of 22q11.2 Deletion Syndrome. Laryngoscope. 2023 Oct; 133(10):2813-2820.
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Arganbright JM, Hankey PB, Tracy M, Narayanan S, Noel-MacDonnell J, Ingram D. Tonsillectomy in Children with 22q11.2 Deletion Syndrome. Genes (Basel). 2022 11 23; 13(12).
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Hankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright J. Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review. Int J Pediatr Otorhinolaryngol. 2022 Dec; 163:111373.
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Arganbright JM, Tracy M, Feldt M, Narayanan S, Mahadev A, Noel-MacDonnell J. Postoperative Hypocalcemia following Non-Cardiac Surgical Procedures in Children with 22q11.2 Deletion Syndrome. Genes (Basel). 2022 10 20; 13(10).
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