Miller-Dieker syndrome

Miller-Dieker Syndrome is a disease characterised by a developmental defect of the brain, caused by incomplete neuronal migration. The brain is smooth (also known as lissencephaly), has an absence of sulci and giri, has a cerebral cortex 4 layers thick instead of 6 and shows microcephaly. There is a characteristic facial appearance, retarded growth and mental development, and multiple abnormalities of the brain, heart, kidney and gastrointestinal tract. Originally thought to be an autosomal recessive disorder, it is now known to be an autosomal dominant disorder, and a haploinsufficiency of one or more genes on chromosome 17p. more...

Failure to thrive, feeding difficulties, seizures and decreased spontaneous activity are often seen, and death tends to occur in infancy and childhood.

The disease arises the deletion of part of 17p (which includes both the LIS1 and 14-3-3 epsilon gene), leading to partial monosomy. There may be unbalanced translocations (ie 17q:17p or 12q:17p), or the presence of a ring chromosome 17. The disease may be diagnosed by cytogenetic techniques.

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