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Miller-Dieker syndrome is a genetic disorder involving the incomplete development of the brain. This disorder is characterized by lissencephaly, which is an increased smoothness of the brain's surface. Normally, the brain's surface is not smooth and has many distinct grooves and folds. Individuals with Miller-Dieker syndrome also have a certain facial appearance, a small head, delayed growth and mental development, neurological complications, and abnormalities of the brain, kidneys, heart, and gastrointestinal tract.
Miller-Dieker syndrome is inherited as an autosomal recessive trait. A child receives two copies of every gene, one from each parent. In order for a child to be affected by Miller-Dieker syndrome the child must inherit two copies of the abnormal gene, one from each parent. Even though each parent carries the gene for this disease they are not affected with Miller-Dieker syndrome because they each have a second, normal copy of the gene. When both parents have one normal gene and one altered gene, each child they conceive has a 25% chance of receiving two altered copies, which results in disease.
Miller-Dieker syndrome is due to a deletion, or missing piece, of the LIS 1 gene located on chromosome 17. Genes direct the development and function of every cell in the body. A loss of genetic material contained within this gene causes the failure of certain nerve cells, which are important in the development of the normal brain.
Miller-Dieker syndrome can be diagnosed using a special molecular genetic test called fluorescent in situ hybridization (FISH). This test identifies whether or not there is an abnormality on chromosome 17. Most major medical centers are able to perform this test.
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. Because these children do not grow well, they may benefit from a feeding tube to correct feeding problems, poor nutrition, and repeated bouts of pneumonia. Special education programs at school assist the child to reach their highest potential. If the child has severe malformations of the brain, most likely the child will not respond well to treatment.
Birth Disorder Information Directory
A nice listing of weblinks providing information about MDS and support for those affected.
Central website to gather general information about the condition.
Good examples and pictures of an affected child.
National Library of Medicine, www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome456.html