Trisomy 13 (Patau syndrome)

Topic Completed: 1 September 2014

Minor changes: 25 September 2019

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PubMed Search: Trisomy 13 Patau syndrome [title]

Deepali Jain, M.D.
Page views in 2019: 792
Page views in 2020 to date: 259
Cite this page: Jain D. General: trisomy 13 (Patau syndrome). PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/eyetrisomy13.html. Accessed May 28th, 2020.
Definition / general
  • Almost all patients have severe ocular abnormalities
  • 80% have microphthalmos (abnormally small eyes), cyclopean synophthalmus (fused eyes), colobomas, cataracts (Am J Ophthalmol 2006;141:1057) or persistent hyperplastic primary vitreous
  • 75% have retinal dysplasia (tubular and rosette like structures)
  • 65% have cartilage within coloboma
  • 60% have anterior chamber dysgenesis (defective development of cornea, iris or anterior chamber angle), often associated with congenital glaucoma
Case reports
Clinical images

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Cyclopia with proboscis

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