Trisomy 13

a.k.a. Patau syndrome

• Severe congenital and neurodevelopmental impairment
• Midline defects
  • cleft lip and palate, holoprosencephaly, scalp defects (aplasia cutis), congenital heart disease.
• Poor prognosis for life with high infant mortality, most infants die in the first days or weeks of life only 5-10% survive beyond the first year.

• Microphthalmia/ Anophthalmia
• Coloboma of iris
• Corneal Opacities
• Cataracts- often sectoral associated with coloboma
• Retinal dysplasia, Retinal Detachment. Coats Disease
• Persistent fetal vasculature
• Glaucoma
• Kerato-irido-lenticular dysgenesis
• Optic Nerve Hypoplasia
• Cerebral Vision impairment

• Congenital heart disease
• Polydactyly
• Microcephaly
• GU malformations
  • cryptorchidism and renal anomalies
• Ear anomalies
• Omphalocele

• Chromosome abnormality

• Clinical ocular abnormalities in infants with trisomy 13. Leuder, Gregg T. Am J Ophthalmol. 2006;(141(6):1057-60
• Medline Plus Trisomy 13