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| digeorge_syndrome [2022/02/01 03:30] – [Eye Findings] Scott Larson | digeorge_syndrome [2025/06/14 03:47] (current) – [Eye Findings] Scott Larson |
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| ====== DiGeorge Syndrome ====== | ====== DiGeorge Syndrome ====== |
| ====Main Features==== | ====Main Features==== |
| * Vaious phenotypic expressions with multiorgan dysgenesis | * Various phenotypic expressions with multiorgan dysgenesis |
| * Most common abnormalities involve the following systems/organs: | * Most common abnormalities involve the following systems/organs: |
| * cardiac | * cardiac |
| * Dacryostenosis (3%) | * Dacryostenosis (3%) |
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| Funds Vascular Tortuosity and Optic Nerve anomaly in teenager with DiGeorge | **Fundus Vascular Tortuosity and Optic Nerve anomaly in teenager with DiGeorge** |
| {{:digeorge_fundus.png?600| }} | {{:digeorge_fundus.jpg?|}} |
| ====Other Findings==== | ====Other Findings==== |
| * Renal, endocrine, immunologic, and psychiatric problems | * Renal, endocrine, immunologic, and psychiatric problems |
| ====Etiology==== | ====Etiology==== |
| * Partial deletion of the long arm of chromosome 22 (deletion 22q11.2) | * Partial deletion of the long arm of chromosome 22 (deletion 22q11.2) |
| | * [[22q11_2_distal_deletion_syndrome|22q11.2 distal deletion syndrome]] is considered distinct from DiGeorge and is described separately |
| ====Reference==== | ====Reference==== |
| * [[https://bit.ly/3recnfO|Ocular Findings in 22q11.2 deletion syndome: A systematic literature reveiw and results of a Dutch multicenter study]] | - [[https://pmc.ncbi.nlm.nih.gov/articles/PMC9298823/|Ocular Findings in 22q11.2 deletion syndome: A systematic literature reveiw and results of a Dutch multicenter study]] |
| * [[https://www.sciencedirect.com/science/article/pii/S1091853121005371#bib2| Microphthalmia and orbital cysts in DiGeorge syndrome- JAAPOS]] | - [[https://www.sciencedirect.com/science/article/pii/S1091853121005371#bib2| Microphthalmia and orbital cysts in DiGeorge syndrome- JAAPOS]] |
| | - [[https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/|Medline Plus]] |
| | - [[https://www.ncbi.nlm.nih.gov/books/NBK1523/|Gene Reviews]] |
| | - [[https://pubmed.ncbi.nlm.nih.gov/30565249/|Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Sullivan KE. Immunol Rev. 2019;287(1):186-201]] |
| | - [[https://pubmed.ncbi.nlm.nih.gov/27189754/|22q11.2 Deletion Syndrome. McDonald-McGinn DM et al. Nat Rev Dis Primers 2016;1:15071]][[https://1drv.ms/b/c/31d83ae8e55e0542/EU8oB5VtUoJOgCwiO0yjK8IBon0vaHoaikwiwmCpETN0Kg?e=u9lePW|-]] |
| | - [[https://pubmed.ncbi.nlm.nih.gov/30565249/|Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Sullivan KE. Immunol Rev. 2019;287(1):186-201]] |
| | - [[https://pubmed.ncbi.nlm.nih.gov/18179902/|22q11.2 distal deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome. Ben-Shachar, S et al. American Journal of Human Genetics. 2008;82:214-221]][[https://1drv.ms/b/c/31d83ae8e55e0542/EYWY46ch_AVImK-53uxNBHsBTKF6oBRHQvljDpWulBhw8A?e=u0X5p4 |-]] |
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| {{tag>syndrome}} | {{tag>syndrome}} |