MCID: DND001
MIFTS: 40

Dandy-Walker Syndrome malady

Categories: Genetic diseases (common), Neuronal diseases

Aliases & Classifications for Dandy-Walker Syndrome

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Aliases & Descriptions for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 49 10 11 22 23 46 12 36 65
Dandy-Walker Malformation 22 23 47
Dwm 22 23
Hydrocephalus, Noncommunicating, Dandy-Walker Type 23
Atresia of Foramina of Magendie and Luschka 10
Hydrocephalus, Internal, Dandy-Walker Type 23
Luschka-Magendie Foramina Atresia 23
 
Dandy-Walker Deformity 23
Dandy Walker Variant 65
Dandy-Walker Variant 24
Dandy-Walker Complex 23
Dandy-Walker Cyst 23
Dws 23

Characteristics:

HPO:

61
dandy-walker syndrome:
Inheritance: heterogeneous


Classifications:



External Ids:

OMIM49 220200
Disease Ontology10 DOID:2785
ICD1027 Q03.1
SNOMED-CT59 14447001, 204063009
MeSH36 D003616
NCIt42 C75012
UMLS65 C0010964, C2931015

Summaries for Dandy-Walker Syndrome

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NINDS:46 Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.

MalaCards based summary: Dandy-Walker Syndrome, also known as dandy-walker malformation, is related to dandy-walker malformation with intellectual disability, basal ganglia disease and seizures and dandy-walker malformation with postaxial polydactyly, and has symptoms including abnormality of the vertebrae, dandy-walker malformation and prominent occiput. An important gene associated with Dandy-Walker Syndrome is DWS (Dandy-Walker Syndrome). Affiliated tissues include brain, cerebellum and heart.

Genetics Home Reference:23 Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.

OMIM:49 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of... (220200) more...

Wikipedia:68 Dandy–Walker syndrome (DWS) is a congenital human brain malformation involving the cerebellum and the... more...

Related Diseases for Dandy-Walker Syndrome

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Diseases related to Dandy-Walker Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1dandy-walker malformation with intellectual disability, basal ganglia disease and seizures12.6
2dandy-walker malformation with postaxial polydactyly12.5
3isolated dandy-walker malformation12.4
4dandy-walker malformation with facial hemangioma12.3
5dandy-walker malformation with sagittal craniosynostosis and hydrocephalus12.3
6dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis12.3
7dandy-walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy12.3
8dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia12.3
9craniosynostosis-dandy-walker malformation-hydrocephalus syndrome12.3
10facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome12.3
11isolated dandy-walker malformation without hydrocephalus12.3
12isolated dandy-walker malformation with hydrocephalus12.3
13spinal muscular atrophy-dandy-walker malformation-cataracts syndrome12.3
14mental retardation, x-linked syndromic 511.8
15meckel syndrome 711.5
16nphp3-related meckel-like syndrome11.5
17dandy-walker complex11.3
18hydrocephalus10.4
19meningocele10.4
20arachnoiditis10.2
21syringomyelia10.2
22arachnoid cysts10.2
23encephalocele10.2
24congenital hydrocephalus10.2
25lipoma10.0
26bipolar disorder10.0
27breast reconstruction10.0
28hemangioma10.0
29myasthenia gravis10.0
30osteopetrosis10.0
31renal tubular acidosis10.0
32carnitine palmitoyltransferase ii deficiency10.0
33choroiditis10.0
34polydactyly10.0
35trigeminal neuralgia10.0
36polyneuropathy10.0
37hypothyroidism10.0
38cutis laxa10.0
39chronic polyneuropathy10.0
40neuropathy10.0
41neurofibromatosis10.0
42diabetes insipidus10.0
43pulmonary embolism10.0
44bobble-head doll syndrome10.0
45cerebrospinal fluid leak10.0
46chiari malformation10.0
47head injury10.0
48headache10.0
49occipital encephalocele10.0
50otosclerosis 58.0CPT2, DPH1, DWS, NDUFA4, PLEKHM1

Graphical network of the top 20 diseases related to Dandy-Walker Syndrome:



Diseases related to dandy-walker syndrome

Symptoms for Dandy-Walker Syndrome

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Symptoms by clinical synopsis from OMIM:

220200

Clinical features from OMIM:

220200

HPO human phenotypes related to Dandy-Walker Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of the vertebrae hallmark (90%) HP:0003468
2 dandy-walker malformation hallmark (90%) HP:0001305
3 prominent occiput hallmark (90%) HP:0000269
4 frontal bossing typical (50%) HP:0002007
5 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
6 encephalocele occasional (7.5%) HP:0002084
7 tetralogy of fallot occasional (7.5%) HP:0001636
8 cleft palate occasional (7.5%) HP:0000175
9 abnormality of the urinary system occasional (7.5%) HP:0000079
10 cranial nerve paralysis HP:0006824
11 partial absence of cerebellar vermis HP:0002951
12 agenesis of cerebellar vermis HP:0002335
13 dilated fourth ventricle HP:0002198
14 truncal ataxia HP:0002078
15 posterior fossa cyst at the fourth ventricle HP:0000933
16 thinning and bulging of the posterior fossa bones HP:0000931
17 elevated imprint of the transverse sinuses HP:0000930
18 nystagmus HP:0000639
19 hydrocephalus HP:0000238

UMLS symptoms related to Dandy-Walker Syndrome:


cerebellar ataxia

Drugs & Therapeutics for Dandy-Walker Syndrome

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Drugs for Dandy-Walker Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3572

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
2Brain Development Research ProgramRecruitingNCT00305305
3Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)RecruitingNCT01016756
4Detection and Quantification of Neonatal Intraventricular HemorrhageEnrolling by invitationNCT01899651

Search NIH Clinical Center for Dandy-Walker Syndrome


Cochrane evidence based reviews: dandy-walker syndrome

Genetic Tests for Dandy-Walker Syndrome

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Genetic tests related to Dandy-Walker Syndrome:

id Genetic test Affiliating Genes
1 Dandy-Walker Syndrome22

Anatomical Context for Dandy-Walker Syndrome

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MalaCards organs/tissues related to Dandy-Walker Syndrome:

33
Brain, Cerebellum, Heart, Spinal cord, Eye, Bone, Kidney

Animal Models for Dandy-Walker Syndrome or affiliated genes

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Publications for Dandy-Walker Syndrome

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Articles related to Dandy-Walker Syndrome:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-SjAPgren syndrome and Dandy-Walker syndrome. (27106665)
2016
2
Mortality of Dandy-Walker syndrome in the United States: Analysis by race, gender, and insurance status. (25883477)
2015
3
Asymptomatic Dandy-Walker syndrome in an adult. (25584127)
2014
4
Trigeminal neuralgia due to Dandy-Walker syndrome. (23851831)
2013
5
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. (19645988)
2009
6
Dandy-Walker syndrome together with occipital encephalocele. (18511899)
2008
7
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. (18648217)
2008
8
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. (18453959)
2008
9
Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. (18979394)
2008
10
Dandy-Walker syndrome in adult mimicking myasthenia gravis. (17420852)
2007
11
Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. (16195680)
2005
12
Giant occipital meningocele as a presenting feature of Dandy-Walker syndrome. (15347883)
2004
13
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
14
Old age presentation of the Dandy-Walker syndrome associated with unilateral sudden sensorineural deafness and vertigo. (11827588)
2002
15
Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. (11822087)
2001
16
Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome. (10505838)
1999
17
Dandy-Walker syndrome successfully treated with cystoperitoneal shunting--case report. (10598445)
1999
18
Seizures and the Dandy-Walker syndrome: a case of suspected pseudoseizures. (8711081)
1996
19
Anesthetic management of a neonate with Dandy-Walker syndrome. (23568125)
1994
20
Tectocerebellar dysraphia with posterior encephalocele (Friede): report of the youngest case. Reappraisal of the condition uniting Cleland-Chiari (Arnold-Chiari) and Dandy-Walker syndromes. (7955668)
1994
21
The Dandy-Walker syndrome: the value of antenatal diagnosis. (1555367)
1992
22
Congenital hydrocephalus mimicking Dandy-Walker syndrome induced by 6-aminonicotinamide injection in pregnant rat. (1724296)
1991
23
The Dandy-Walker syndrome: diagnostic and surgical considerations. (1764229)
1991
24
The Dandy-Walker syndrome. Relevance to anaesthesia and intensive care. (2205120)
1990
25
CSF dynamics in Dandy-Walker syndrome. (2386089)
1990
26
Coexistence of Dandy-Walker syndrome and Down's syndrome. (2524010)
1989
27
Agenesis of the corpus callosum with cerebellar vermian hypoplasia in a foal resembling the Dandy-Walker syndrome: pre-mortem diagnosis by clinical evaluation and CT scanning. (2776727)
1989
28
Magnetic resonance imaging of an adult with the Dandy-Walker syndrome. (3249328)
1988
29
Electrophysiological assessment of motor control in a case of Dandy-Walker syndrome. (4091060)
1985
30
Dandy-Walker syndrome diagnosed in utero. (6682509)
1983
31
Dandy-Walker syndrome without hydrocephalus in an adult. (6680029)
1983
32
Dandy-Walker syndrome: analysis of 21 cases. (7380119)
1980
33
The dysraphic state of the posterior fossa. Clinical review of the Dandy-Walker syndrome and the so-called arachnoid cysts. (536750)
1979
34
Problems of diagnosis and treatment in the Dandy-Walker syndrome. (446192)
1979
35
Failure of pyramidal tract decussation in the Dandy-Walker syndrome. Report of two cases. (422992)
1979
36
Adult onset of the Dandy-Walker syndrome. (697607)
1978
37
Parinaud's syndrome, false localising sign of pseudo-Dandy-Walker syndrome. (756328)
1978
38
Dandy-Walker syndrome: clinico-pathological features and re-evaluation of modes of treatment. (888088)
1977
39
An autopsy case of the Dandy-Walker syndrome. (1024679)
1976
40
Dandy-Walker syndrome associated with congenital heart defects: report of three cases. (1060596)
1975
41
Cystic lesions of the posterior fossa in infants: a comparison of the clinical, radiological, and pathological findings in Dandy-Walker syndrome and extra-axial cysts. (5314328)
1971
42
The value of angiography in the Dandy-Walker syndrome and posterior fossa extra-axial cysts. (5310272)
1970
43
X-ray of the month. The Dandy-Walker syndrome. (5351754)
1969
44
Obstruction following posterior fossa surgery: the postoperative Dandy-Walker syndrome. (5301407)
1968
45
CLINICAL PATHOLOGICAL CONFERENCE: THE DANDY-WALKER SYNDROME. (14105052)
1964
46
THE DANDY WALKER SYNDROME. (14248489)
1964
47
Cystic enlargement and obstruction of the fourth ventricle following posterior fossa surgery. The postoperative Dandy-Walker syndrome. (14497853)
1962
48
The Dandy-Walker syndrome. A report of three cases. (13752182)
1961
49
Radiologic aspects of Dandy-Walker syndrome. (14442229)
1960
50
The Dandy-Walker syndrome or the so-called atresia of the foramen Magendie. (13118372)
1954

Variations for Dandy-Walker Syndrome

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Clinvar genetic disease variations for Dandy-Walker Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DPH1NM_001383.3(DPH1): c.701T> C (p.Leu234Pro)single nucleotide variantLikely pathogenic, Pathogenicrs730882250GRCh37Chr 17, 1943054: 1943054

Expression for genes affiliated with Dandy-Walker Syndrome

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Search GEO for disease gene expression data for Dandy-Walker Syndrome.

Pathways for genes affiliated with Dandy-Walker Syndrome

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GO Terms for genes affiliated with Dandy-Walker Syndrome

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Sources for Dandy-Walker Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet