====== Smith-Lemli-Optiz Syndrome ======
==== Characteristics ====
  * distinctive facial features
    * microcephaly with bitemporal narrowing, a short upturned nose with anteverted nares, unilateral or bilateral ptosis, epicanthus, and retrognathia 
{{::smith_lemli_optiz.png?600|}} See Reference 1 below
  * microcephaly 
  * intellectual disability or learning problems
  * behavioral problems
    * autism
  * Feeding difficulties and growth delay
  * Malformations
    * heart 
    * lungs
    * kidneys
    * gastrointestinal tract
    * genitals
    * polydactyly
    * syndactyly
==== Ocular Abnormalities ====
  * Cataract (congenital or acquired) 
  * Strabismus
  * Demylenation of optic nerves
  * Sclerosis of lateral geniculate bodes
  * Opsoclonus
  * Poor visual following behavior
====Etiology====
  * [[https://ghr.nlm.nih.gov/gene/DHCR7|DHCR7]] gene mutations
  * Inherited in an autosomal recessive pattern.
====References====
  - [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343216/#!po=0.505051 | Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome]]\\
  - [[http://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome|NLM Link]]\\

{{tag>syndrome}}