Miller Dieker syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Miller Dieker syndrome. This is caused by microdeletions in chromosome 17p. Fully referenced neurology checklist.
Genetics
- This is caused by microdeletions in chromosome 17p
- It is associated with mutations in the LIS1, DCX, ARX and TUBA3 genes
Pathological features
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Dysmorphic features
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Seizures
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Other neurological features
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Differential diagnosis of lissencephaly
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Differential diagnosis of dysmorphia without lissencephaly
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Encephalogram (EEG)
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References
- Sorge G, Sorge A. Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010; 36:36.
- Chong SS, Pack SD, Roschke AV, et al. A revision of the lissencephaly and Miller–Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 1997; 6:147–155.
- Herman TE, Siegel MJ. Miller-Dieker syndrome, type 1 lissencephaly. J Perinatol 2008; 28:313-315.
Related checklists
- Epilepsy and chromosomal disorders: classification
- Angelman syndrome
- Alfi syndrome
- Patau syndrome
- Williams Beuren syndrome (WBS)
- Wolf-Hirschhorn syndrome
- 1p36 monosomy
- 1q deletion syndrome
- 2p deletion syndrome
- 2q deletion syndrome
- 3p deletion syndrome
- 6q terminal deletion syndrome
- 15 inversion duplication syndrome
- 15q13.3 microdeletion syndrome
- 18q deletion syndrome
- Fragile X syndrome
- Ring 14 chromosome
- Ring 20 chromosome
- Trisomy 12p
