====== 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====
  * [[https://pubmed.ncbi.nlm.nih.gov/16765673/|Clinical ocular abnormalities in infants with trisomy 13. Leuder, Gregg T. Am J Ophthalmol. 2006;(141(6):1057-60]]
  * [[https://medlineplus.gov/genetics/condition/trisomy-13/|Medline Plus Trisomy 13]]

{{tag>syndrome}}