Genetics
Miller-Dieker syndrome is characterized by a developmental defect of the brain, caused by incomplete neuronal migration.  The disease arises from the deletion of both the LIS1 and 14-3-3 epsilon gene located on chromosome 17 at 17p13.3.  Miller-Dieker is inherited in an autosomal dominant manner.  An estimated 80% of these cases develop sporadically.

Incidence
Affects approximately 1 in 50,000 individuals

Symptoms/Characteristics

• Delayed growth and mental development
• Smooth brain surface (lissencephaly)
• Multiple abnormalities of the brain, heart, kidney and gastrointestinal tract.
• Feeding difficulties
• Seizures
• Death tends to occur in infancy and childhood
• Severe visual problems

Facial Features

• Small mouth with a wide upper lip
• High forehead
• Low set ears
• Microcephaly

Clinical Management
Treatment depends on the severity of the symptoms the child develops over time.  Medical therapies are available to treat epilepsy, as well as the complications affecting the kidneys, heart, and intestinal tract.  Patients may benefit from a feeding tube.  Special education programs at school are beneficial.  Children with severe malformations of the brain most likely will not respond well to treatment.