====== Opitz Syndrome ======
AKA. Oculi-genito-laryngeal syndrome, BBB/G compound syndrome
====Main Features====
  * Defects in midline structures
  * Telecanthus (wide spaced eyes)
  * Hypospadius
  * Cleft lip or palate (25%) 
====Eye Findings====
  * Telecanthus / Hypertelorism
  * Strabimus (exotropia more likely)
  * Anisometropia
====Other Findings====
  * Prominent forehead
  * Small Jaw
  * Ear abnormalities
  * Laryngotracheaoesophageal malformations
  * Congenital heart defects
  * Brain Malformations
====Etiology====
  * Chromosome 22q11.2 deletion 
  * MID1 gene defect
    * X-linked 

====Reference====
  * [[https://www.omim.org/entry/300000|OMIM reference]]
  * [[https://www.ncbi.nlm.nih.gov/books/NBK1523/|Gene Reviews]]

{{tag>syndrome}}