Disease Information for Miller-Dieker syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Receding chin deformity
Uvula anomaly/deformity
Webbed fingers
Dysmorphic appearance/face
Downward sloping eyes/Antimongoloid slant
Lower lid ectropion/sign
Anomalous ears/deformities
Cup shaped ears
Prominent Ears
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Toddler
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Cytogenetics Abnormal
DNATest specific/genetics laboratory/abnormality (Lab)
FISH (Fluorescent in situ hybridization) DNA test/abnormal (Lab)
Genomic Microarray/CGH
Associated Diseases & Rule outs
Associated Disease & Complications
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital anomalies
Congenital heart disease
Deafness
Deafness, congenital
Ear deformities/congenital
Facial dysplasia
Limb deformities/anomalies
Malar/dysplasia
Micrognathia/congenital small chin
Miller-Dieker syndrome
Syndactyly/Webbing
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Gene locus 17p13.3
Pathophysiology/Gene locus Chromosome 17
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Postaxial limb deficiency/phocomelia
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Miller Dieker syndrome, Synonym/Millers syndrome, Synonym/Postaxial acrofacial dysostosis
Definition

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;

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External Links Related to Miller-Dieker syndrome
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Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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