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DiGeorge Syndrome

Main Features

  • Vaious phenotypic expressions with multiorgan dysgenesis
  • Most common abnormalities involve the following systems/organs:
    • cardiac
    • craniofacial
    • thymus
    • parathyroid

Eye Findings

  • Orbit: eyelid abnormalities (ie, hooding, ptosis, distichiasis)
  • Globe
    • Microphtalmia
    • Persistent fetal vasculature (see JAAPOS reference below)
  • Anterior segment
    • posterior embryotoxon
    • sclerocornea
    • Peters anomaly
    • iris remnants
    • cataracts
    • uveitis
    • colobomas
    • Anterior segment dysgenesis
  • Posterior segment
    • Tortuous retinal vessels
    • 22q11.2 may be an additional genetic locus for familial exudative vitreoretinopathy

Other Findings

  • Renal, endocrine, immunologic, and psychiatric problems

Etiology

  • Partial deletion of the long arm of chromosome 22 (deletion 22q11.2)

Reference