Table of Contents
Donnai-Barrow Syndrome
Main Features
Major Ocular Features
Other Features
Cause
Resources
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
LRP2 Gene review
OMIM for Donnai-Barrow Syndrome
syndrome