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--- donnai_barrow_syndrome [2015/07/13 02:22] – created admin
+++ donnai_barrow_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1
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+====== 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}}

syndrome