- a.k.a. Faciooculoacousticorenal syndrome (FOAR)
- Facial abnormalities
- Prominent Brow
- Short Nose
- Hypertelorism
- Ocular anomalies
- Myopia (often high)
- Iris hypoplasia
- Retinal Detachment
- Acoustic problems
- sensorineural hearing loss
- Renal problems
- Proteinuria
- 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
- Diaphragmatic hernia
- Omphalocele
- Macrocelphaly
- Ventricular septal defect
- Corpus callosum partial or complete agenesis
- Mutation in the Low density lipoprotein receptor related protein 2 gene (LRP2)
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