Trisomy 13 (Patau syndrome)

Author: Deepali Jain, M.D. (see Authors page)

Revised: 22 February 2018, last major update September 2014

Copyright: (c) 2002-2018, PathologyOutlines.com, Inc.

PubMed Search: Trisomy 13 Patau syndrome [title]

Cite this page: Jain, D. Trisomy 13 (Patau syndrome). PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/eyetrisomy13.html. Accessed March 22nd, 2018.
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