Miller-Dieker lissencephaly syndrome
What is Miller-Dieker lissencephaly syndrome?
Miller-Dieker lissencephaly syndrome is a genetic condition identified by a pattern of abnormal brain development known. This is known in medical terms as lissencephaly. The normal brain has many folds and grooves and individuals with Miller-Dieker lissencephaly syndrome have fewer folds and grooves or what looks like an abnormally smooth brain. Because of this condition, individuals have severe intellectual disability, seizures, developmental delay, a floppy baby appearance that is called hypotonia, as well as abnormal muscle stiffness. Feed difficulties are also problematic. For many, the less folds and grooves found in the brain, the more severe the associated symptoms are.
In addition to fewer folds and grooves found in the brain, those with lissencephaly Miller-Dieker syndrome tend to display distinctive facial features such as a prominent forehead; a sunken appearance seen in the middle of the face; a small, upturned nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip.
Rarely, affected individuals will have heart or kidney problems. Also rare, but having been reported, is an opening in the wall of the abdomen, The medical term for this is an omphalocele, which allows the abdominal organs to protrude through the belly button. Unfortunately, individuals with Miller-Dieker syndrome do not survive beyond childhood.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/miller-dieker-lissencephaly-syndrome/overview/59092 • DATE UPDATED: 2016-07-27