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- Disease Information
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Disease Processes ▼
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Major Organs-Systems ▼
- Systemic
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Disease Information for Miller-Dieker syndrome
- 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)
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- Pathophysiology
- Pathophysiology/Gene locus 17p13.3
- Pathophysiology/Gene locus Chromosome 17
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- Pathophysiology/Postaxial limb deficiency/phocomelia
- Process
- PROCESS/Autosomal recessive disorder (ex)
- PROCESS/Congenital/developmental (category)
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- 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
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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
- 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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