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digeorge_syndrome [2022/01/31 14:56] – [Other Findings] Scott Larsondigeorge_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
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 ====Eye Findings==== ====Eye Findings====
-  * Orbit: eyelid abnormalities (ie, hooding, ptosis, distichiasis) 
-  * Globe 
-    * Microphtalmia 
-    * Persistent fetal vasculature (see JAAPOS reference below) 
   * Anterior segment   * Anterior segment
-    * posterior embryotoxon +    * Posterior embryotoxon (15%) 
-    * sclerocornea+    * Sclerocornea 
     * Peters anomaly     * Peters anomaly
-    * iris remnants +    * Iris remnants 
-    * cataracts +    * Cataracts 
-    * uveitis +    * Uveitis 
-    * colobomas+    * Colobomas
     * Anterior segment dysgenesis      * Anterior segment dysgenesis 
   * Posterior segment    * Posterior segment 
-    * Tortuous retinal vessels+    * Tortuous retinal vessels (24%) 
 +    * Optic Disc abnormalities (hypoplastic, hyperpigmented, small or tilted, excavated) (9%)
     * 22q11.2 may be an additional genetic locus for familial exudative vitreoretinopathy     * 22q11.2 may be an additional genetic locus for familial exudative vitreoretinopathy
 +  * Globe
 +    * Microphthalmia with or without orbital cyst- rare
 +    * Persistent fetal vasculature- rare 
 +  * External, Orbit, Vision
 +    * Strabismus (10%) / Amblyopia (6%)
 +    * Eyelid abnormalities 
 +      * Epicanthus (4%)
 +      * Ptosis (3%)
 +      * Distichiasis
 +      * Dacryostenosis (3%)
 +
 +**Fundus Vascular Tortuosity and Optic Nerve anomaly in teenager with DiGeorge**
 +{{: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://onlinelibrary.wiley.com/doi/full/10.1002/1096-8628%28200022%2997%3A2%3C128%3A%3AAID-AJMG4%3E3.0.CO%3B2-Z|Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications]] +  - [[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]]+  - [[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 |-]]
  
 {{tag>syndrome}} {{tag>syndrome}}