Chanarin-Dorfman Syndrome - Key Clinical Features

Very frequent

• Ichthyosis
• Cataract
• Neurosensory hearing loss
• Vacuolated white cells
• Hepatomegaly
• Liver/biliary tract anomalies
• Urticaria

Frequent

• Retinal pigmentary peripheral changes
• Squint/paresis of ocular muscles
• Ptosis
• Philtrum flat/featureless
• Lordosis
• Tight skin/lack of elasticity
• Mental retardation (mild)
• Myopathy
• E.M.G. anomalies
• Muscle biopsy anomaly

Occasional

• Corneal clouding/opacity
• Nystagmus