 Dandy-Walker Syndrome
"Dandy-Walker Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)
| Descriptor ID |
D003616
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| MeSH Number(s) |
C10.228.140.252.300 C10.228.140.602.288 C10.228.140.631.450.500 C10.500.205 C16.131.666.205
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| Concept/Terms |
Dandy-Walker Syndrome- Dandy-Walker Syndrome
- Dandy Walker Syndrome
- Syndrome, Dandy-Walker
- Dandy-Walker Syndrome, Familial
- Dandy Walker Syndrome, Familial
- Familial Dandy-Walker Syndrome
- Syndrome, Familial Dandy-Walker
- Dandy-Walker Malformation
- Dandy Walker Malformation
- Malformation, Dandy-Walker
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Below are MeSH descriptors whose meaning is more general than "Dandy-Walker Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Dandy-Walker Syndrome".
This graph shows the total number of publications written about "Dandy-Walker Syndrome" by people in this website by year, and whether "Dandy-Walker Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 1 | 2 | | 1996 | 0 | 1 | 1 | | 2001 | 1 | 0 | 1 | | 2003 | 0 | 1 | 1 | | 2004 | 1 | 0 | 1 | | 2005 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 2008 | 2 | 0 | 2 | | 2009 | 1 | 0 | 1 | | 2013 | 2 | 0 | 2 | | 2016 | 0 | 1 | 1 | | 2017 | 1 | 0 | 1 | | 2019 | 0 | 1 | 1 |
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Below are the most recent publications written about "Dandy-Walker Syndrome" by people in Profiles.
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Haldipur P, Aldinger KA, Bernardo S, Deng M, Timms AE, Overman LM, Winter C, Lisgo SN, Razavi F, Silvestri E, Manganaro L, Adle-Biassette H, Guimiot F, Russo R, Kidron D, Hof PR, Gerrelli D, Lindsay SJ, Dobyns WB, Glass IA, Alexandre P, Millen KJ. Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science. 2019 10 25; 366(6464):454-460.
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Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ. Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife. 2017 01 16; 6.
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Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 09; 170(9):2237-47.
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Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar; 22(3):363-8.
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Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat. 2013 Aug; 34(8):1075-9.
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Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009 Sep; 41(9):1037-42.
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Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 2008 Nov 11; 71(20):1602-8.
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Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG. Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet. 2008 Apr; 123(3):237-45.
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Ruiz-de-Luzuriaga AM, Bardo D, Stein SL. PHACES association. J Am Acad Dermatol. 2006 Dec; 55(6):1072-4.
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Sikorski CW, Curry DJ. Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. Pediatr Neurosurg. 2005 Sep-Oct; 41(5):264-8.
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