Miller-Dieker syndrome, also called Miller-Dieker lissencephaly syndrome or chromosome 17p13.3 deletion syndrome, is a microdeletion syndrome marked by congenital malformations. It results from a deletion on chromosome 17p that removes key genes, particularly PAFAH1B1 and YWHAE, disrupting normal brain development; the deletion usually arises randomly during formation of reproductive cells or early fetal development rather than being inherited. Affected individuals have a smooth brain lacking its normal folds and grooves, a condition called lissencephaly, along with distinctive facial features such as a short upturned nose and small jaw, severe intellectual disability, epilepsy and feeding difficulties. Most do not survive beyond childhood, and pneumonia is the most common cause of death in those who live longer.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Wikipedia: Miller-Dieker syndrome
WikipediaLead: causative agent category
The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the LIS1 and 14-3-3 epsilon genes), leading to partial monosomy.
Lead section, body-system statement
Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body, including the brain, heart, lungs, liver, bones, or intestinal tract.
Lead section, transmission-route statement
Miller-Dieker syndrome, also called Miller-Dieker lissencephaly syndrome (MDLS) or chromosome 17p13.3 deletion syndrome, is a micro deletion syndrome characterized by congenital malformations.
Lead section, body-system statement (nervous)
Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body, including the brain, heart, lungs, liver, bones, or intestinal tract.
Lead section, body-system statement (cardiovascular)
Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body, including the brain, heart, lungs, liver, bones, or intestinal tract.
View the Source 2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases sectionQuote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
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