Miller-Dieker syndrome
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Miller-Dieker syndrome is a condition characterised by a pattern of abnormal brain development called lissencephaly. Normally, the surface of the brain (cerebral cortex) has folds and grooves. Lissencephaly causes the surface of the brain to be abnormally smooth, with fewer folds and grooves. In people with Miller-Dieker syndrome, lissencephaly is typically associated with severe intellectual disabilities, developmental delays, weak muscle tone (hypotonia), and seizures. Seizures usually begin in the first few months of life.
Beskrivning
Miller-Dieker syndrome is a condition characterised by a pattern of abnormal brain development called lissencephaly. Normally, the surface of the brain (cerebral cortex) has folds and grooves. Lissencephaly causes the surface of the brain to be abnormally smooth, with fewer folds and grooves. In people with Miller-Dieker syndrome, lissencephaly is typically associated with severe intellectual disabilities, developmental delays, weak muscle tone (hypotonia), and seizures. Seizures usually begin in the first few months of life.
People with Miller-Dieker syndrome often have distinctive facial features that include a prominent forehead; a sunken appearance in the middle of the face (midface hypoplasia); a small, upturned nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip. Some individuals with this condition also grow more slowly than their peers. Less often, affected individuals have heart problems, kidney abnormalities, or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Because of these severe health issues, most individuals with Miller-Dieker syndrome do not survive beyond early childhood.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Lissencephaly due to 17p13.3 deletion
MDLS
MDS
Miller-Dieker lissencephaly syndrome
Monosomy 17p13.3
Telomeric deletion 17p
Related patient information and medicines
Patient information leaflet
Kroniskt trötthetssyndrom
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Hypermobilitetsspektrumstörningar
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Cervikal revben
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Sömnapné
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Patient information leaflet
Mikrovaskulär angina
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Kompartmentsyndrom
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Vidare läsning och referenser
- Miller-Dieker syndrome; MedlinePlus, National Library of Medicine.
- Allanson JE, Ledbetter DH, Dobyns WB. Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet. 1998 Nov;35(11):920-3. doi: 10.1136/jmg.35.11.920.
- Blazejewski SM, Bennison SA, Smith TH, Toyo-Oka K. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3. Front Genet. 2018 Mar 23;9:80. doi: 10.3389/fgene.2018.00080. eCollection 2018.
- Brock S, Dobyns WB, Jansen A. PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia. 2009 Mar 3 [updated 2021 Mar 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK5189/
- Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5.
- Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 1991 Mar;48(3):584-94.
- Guerrini R, Filippi T. Neuronal migration disorders, genetics, and epileptogenesis. J Child Neurol. 2005 Apr;20(4):287-99. doi: 10.1177/08830738050200040401.
- Liu X, Bennison SA, Robinson L, Toyo-Oka K. Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3epsilon). Brain Sci. 2021 Dec 30;12(1):56. doi: 10.3390/brainsci12010056.
- Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6.
- Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr. 2009 Mar;98(3):421-33. doi: 10.1111/j.1651-2227.2008.01160.x. Epub 2008 Dec 16.
- Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mech Dev. 2000 Apr;92(2):263-71. doi: 10.1016/s0925-4773(00)00242-2.
- Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 Jul;34(3):274-85. doi: 10.1038/ng1169.
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14 nov 2024 | Senaste versionen
1 Nov 2024 | Ursprungligen publicerad
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