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Diseases

Miller-Dieker Syndrome

miller-dieker syndrome

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Miller-Dieker Syndrome
Standard Disease Name
miller-dieker syndrome
MeSH Tree
No data
ICD-10
Q04.3

Identifiers

DO ID
No data
MeSH ID
D054221
OMIM ID
247200
UMLS ID
C0265219
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.|JABL99:A developmental defect of the brain caused by incomplete neuronal migration and characterized by smoothness of the surface of the brain (lissencephaly) occurring in association with absence of the sulci and gyri (agyria) and thickening of the cerebral cortex with four rather than six layers (pachygyria), microcephaly, characteristic facial appearance, retarded growth and mental development, neurological complications, and multiple abnormalities of the brain, kidneys, heart, gastrointestinal tract, and other organs. Lissencephaly, once considered as synonymous with Walker-Warburg syndrome and Norman-Roberts syndrome, is now recognized as a component of several other syndromes. Type I (the classical form) is a component of Miller-Dieker and Norman-Roberts syndromes, also occurring as a separate entity; Type II the Walker-Warburg and muscle-eye-brain syndrome, also occurring in the Neu-Laxova syndrome.