The syndrome varies in severity and affects almost all areas of the body, resulting in dysmorphic features and learning disability.

Epidemiology

• Severe
• 1 in 3000-8000
• Not usually compatible with life
• 50% of patients die by one week of life
• 90% of patients die by one year of life

Clinical features

• Clenched hand, with overlap of the 2nd and 5th fingers, over the 3rd and 4th
• Rocker bottom feet
• Micrognathia, prominent occiput, micro-ophthalmia
• Low set ears

Complications

• VSD/ASD
• Generalized muscle spasticity
• Renal anomalies
• Mental retardation