====== Donnai-Barrow Syndrome ======
  * a.k.a. Faciooculoacousticorenal syndrome (FOAR)

==== Main Features ====
  * Facial abnormalities
    * Prominent Brow
    * Short Nose
    * Hypertelorism
  * Ocular anomalies
    * Myopia (often high)
    * Iris hypoplasia
    * Retinal Detachment 
  * Acoustic problems
    * sensorineural hearing loss
  * Renal problems
    * Proteinuria
==== Major Ocular Features ====
  * Hypertelorism 
  * High myopia 
  * Loss of vision 
  * Iris coloboma 
  * Iris hypoplasia 
  * Cataract 
  * Enlarged globes and prominent eyes
  * Downslanting palpebral fissures 
  * Underorbital skin creases 
  * Retinal detachment 
  * Retinal dystrophy 

==== Other Features ====
  * Diaphragmatic hernia
  * Omphalocele
  * Macrocelphaly
  * Ventricular septal defect
  * Corpus callosum partial or complete agenesis 

==== Cause ====
  * Mutation in the Low density lipoprotein receptor related protein 2 gene (LRP2)
  
==== Resources ====
  * [[http://omim.org/entry/600073#0001|LRP2 Gene review]]
  * [[http://omim.org/entry/222448|OMIM for Donnai-Barrow Syndrome]]

{{tag>syndrome}}