Miller Dieker Syndrome

What is Miller Dieker syndrome?

Miller Dieker syndrome is an chromosomal abnormality affecting chromosome 17. There have also been cheap oakleys cases where other genes have been affected as well. Most babies with Miller Dieker Syndrome die in the first three months of life. Most infants die from complications of seizures or aspiration pneumonia within two years of age. Occasionally individuals will live for several years.

What are the signs and symptoms of Miller Dieker syndrome?

The major genetic abnormality in this syndrome is the lissencephaly, which is the malformation of the outer layer of the brain cortex.

Other signs and symptoms of Miller Dieker syndrome include:
• severe mental retardation;
• low set ears;
• severe visual problems;
• high forehead;
• small mouth with a wide upper lip;
• normal head size at birth – smaller than normal head circumference (microcephaly) at age one;
• Convulsions (seizures);
• Poor feeding;
• Aspiration pneumonia and infections; and
• Cleft palates.

There can be other genetic abnormalities affecting the heart and kidneys.

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