Trisomy 13

a.k.a. Patau syndrome

Main Features

  • 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.

Eye Findings

  • 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

Other Findings

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

Etiology

  • Chromosome abnormality

Resources