====== DiGeorge Syndrome ======
====Main Features====
  *  Various phenotypic expressions with multiorgan dysgenesis
  * Most common abnormalities involve the following systems/organs:
    * cardiac
    * craniofacial
    * thymus
    * parathyroid

====Eye Findings====
  * Anterior segment
    * Posterior embryotoxon (15%)
    * Sclerocornea 
    * Peters anomaly
    * Iris remnants
    * Cataracts
    * Uveitis
    * Colobomas
    * Anterior segment dysgenesis 
  * Posterior segment 
    * 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
  * 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====
  * Renal, endocrine, immunologic, and psychiatric problems
====Etiology====
  * 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====
  - [[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://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}}