MCID: DND001
MIFTS: 40

Dandy-Walker Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dandy-Walker Syndrome

MalaCards integrated aliases for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 57 12 54 37 29 13 6 44 15 73
Atresia of Foramina of Magendie and Luschka 12
Isolated Dandy-Walker Malformation 59
Dws 57

Characteristics:

Orphanet epidemiological data:

59
isolated dandy-walker malformation
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
isolated cases


HPO:

32
dandy-walker syndrome:
Inheritance heterogeneous sporadic


Classifications:



External Ids:

OMIM 57 220200
Disease Ontology 12 DOID:2785
ICD10 33 Q03.1
MeSH 44 D003616
NCIt 50 C75012
SNOMED-CT 68 14447001 204063009
Orphanet 59 ORPHA217
UMLS via Orphanet 74 C0010964
ICD10 via Orphanet 34 Q03.1
MedGen 42 C0010964
KEGG 37 H01678
UMLS 73 C0010964

Summaries for Dandy-Walker Syndrome

NINDS : 54 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 atresia of foramina of magendie and luschka, is related to dandy-walker complex and hydrocephalus, and has symptoms including cerebellar ataxia and ataxia, truncal. An important gene associated with Dandy-Walker Syndrome is DWS (Dandy-Walker Syndrome). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and heart, and related phenotypes are frontal bossing and cleft palate

Disease Ontology : 12 A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.

OMIM : 57 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985). (220200)

Wikipedia : 76 Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations. There are three... more...

Related Diseases for Dandy-Walker Syndrome

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



Diseases related to Dandy-Walker Syndrome

Symptoms & Phenotypes for Dandy-Walker Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
truncal ataxia
dilated fourth ventricle
cranial nerve palsies
elevated imprint of the transverse sinuses
more
Head And Neck Head:
bulging occiput

Laboratory Abnormalities:
interstitial deletions of 3q, de novo (in some patients)

Head And Neck Eyes:
nystagmus

Skeletal Skull:
thinning and bulging of posterior fossa bones


Clinical features from OMIM:

220200

Human phenotypes related to Dandy-Walker Syndrome:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
2 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
4 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
5 platybasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002691
6 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
7 dandy-walker malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001305
8 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
9 hydrocephalus 32 HP:0000238
10 nystagmus 32 HP:0000639
11 cranial nerve paralysis 32 HP:0006824
12 abnormality of the cardiovascular system 59 Occasional (29-5%)
13 truncal ataxia 32 HP:0002078
14 dilated fourth ventricle 32 HP:0002198
15 agenesis of cerebellar vermis 32 HP:0002335
16 elevated imprint of the transverse sinuses 32 HP:0000930
17 posterior fossa cyst at the fourth ventricle 32 HP:0000933
18 thinning and bulging of the posterior fossa bones 32 HP:0000931
19 partial absence of cerebellar vermis 32 HP:0002951

UMLS symptoms related to Dandy-Walker Syndrome:


cerebellar ataxia, ataxia, truncal

Drugs & Therapeutics for Dandy-Walker Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
2 Brain Development Research Program Recruiting NCT00305305
3 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Dandy-Walker Syndrome

Cochrane evidence based reviews: dandy-walker syndrome

Genetic Tests for Dandy-Walker Syndrome

Genetic tests related to Dandy-Walker Syndrome:

# Genetic test Affiliating Genes
1 Dandy-Walker Syndrome 29

Anatomical Context for Dandy-Walker Syndrome

MalaCards organs/tissues related to Dandy-Walker Syndrome:

41
Brain, Cerebellum, Heart, Eye, Spinal Cord, Bone, Liver

Publications for Dandy-Walker Syndrome

Articles related to Dandy-Walker Syndrome:

(show top 50) (show all 170)
# Title Authors Year
1
Dandy-Walker Syndrome with Giant Cell Lesions and Cherubism. ( 29963440 )
2018
2
Foveal hypoplasia associated with Dandy-Walker syndrome. ( 28774532 )
2017
3
The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports. ( 28635420 )
2017
4
Dandy Walker Syndrome: A Rare Presentation in Adult. ( 29319270 )
2017
5
Paediatric Salzmann's nodular degeneration in Dandy-Walker syndrome variant. ( 29165863 )
2017
6
X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report. ( 29177011 )
2017
7
Scoliosis correction in an adolescent patient with Dandy-Walker syndrome: A case report. ( 28757843 )
2017
8
Psychosis in a Case of Dandy-Walker Syndrome: A Case Report. ( 28658885 )
2017
9
Case 6: Ascites in a 20-year-old Man with Dandy-Walker Syndrome, Hydrocephalus, and Ventriculoperitoneal Shunt. ( 28972056 )
2017
10
Scoliosis in Dandy-Walker syndrome: a case report and review of literature. ( 29354751 )
2017
11
Dandy-Walker syndrome with duplex kidney abnormalities in trisomy 18 - A rare case report. ( 29037562 )
2017
12
A rare case of giant occipital meningocele with Dandy Walker Syndrome: Can it grow bigger than this? ( 28217162 )
2016
13
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-SjAPgren syndrome and Dandy-Walker syndrome. ( 27106665 )
2016
14
Dandy Walker syndrome with giant occipital meningocele with craniovertebral anomalies: Challenges faced during anaesthesia. ( 26962265 )
2016
15
[Intravenous Sedation and Repeated "the Same Day General Anesthesia" for a School-age Boy with Dandy-Walker Syndrome and Dentinogenesis]. ( 27097514 )
2016
16
Dandy Walker Syndrome: A Rare Presentation in Adult. ( 27766825 )
2016
17
Bilateral Macular Edema: A New Ocular Feature of Dandy-Walker Syndrome. ( 27077329 )
2016
18
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. ( 25861538 )
2015
19
Mortality of Dandy-Walker syndrome in the United States: Analysis by race, gender, and insurance status. ( 25883477 )
2015
20
The natural history of Dandy-Walker syndrome in the United States: A population-based analysis. ( 25552847 )
2015
21
Long-term follow-up of successful treatment for dandy-walker syndrome (DWS). ( 26770421 )
2015
22
Bipolar Disorder in a Young Girl with Dandy-Walker Syndrome. ( 26877755 )
2015
23
Rapid resolution of an acute subdural hematoma in Dandy Walker syndrome. ( 25948011 )
2015
24
PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome. ( 26053730 )
2015
25
Dandy-Walker syndrome with severe velopharyngeal dysfunction: a contraindication for Le Fort I surgery? ( 25565232 )
2015
26
Phase-based treatment of a complex severely mentally ill case involving complex posttraumatic stress disorder and psychosis related to Dandy Walker syndrome. ( 24983777 )
2014
27
Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report. ( 24712511 )
2014
28
Asymptomatic Dandy-Walker syndrome in an adult. ( 25584127 )
2014
29
Dandy-Walker syndrome with psychotic symptoms: a case report. ( 24770576 )
2014
30
Central brain herniation in Dandy-Walker syndrome. ( 23801502 )
2013
31
Anesthetic management of an adolescent with Dandy-Walker syndrome. ( 23460934 )
2013
32
Trigeminal neuralgia due to Dandy-Walker syndrome. ( 23851831 )
2013
33
Cochlear implantation in patient with Dandy-walker syndrome. ( 25991966 )
2012
34
Dandy Walker Syndrome with Tessier 7 Cleft-a Rare Case Report and a Surgical Note on the Use of Vermilion Flap and Lazy W-Plasty. ( 23997496 )
2012
35
A case series of 12 patients with incidental asymptomatic Dandy-Walker syndrome and management. ( 22476659 )
2012
36
Ultrasonographic evaluation of the peripheral nerves in a patient with chronic neuropathy and dandy-walker syndrome. ( 22157500 )
2012
37
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. ( 21641254 )
2011
38
Invalidating headaches as a symptom of pulmonary embolism in a Dandy-Walker syndrome with ventriculoatrial shunt. ( 21749565 )
2011
39
Successful treatment of Dandy-Walker syndrome by endoscopic third ventriculostomy in a 6-month-old girl with progressive hydrocephalus: a case report and literature review. ( 21385657 )
2011
40
Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome. ( 20951360 )
2010
41
Racial disparities in mortality among infants with Dandy-Walker syndrome. ( 19476199 )
2009
42
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. ( 19645988 )
2009
43
Dandy-Walker syndrome together with occipital encephalocele. ( 18511899 )
2008
44
Dandy-Walker syndrome. ( 18700642 )
2008
45
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. ( 18648217 )
2008
46
Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. ( 18979394 )
2008
47
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. ( 18453959 )
2008
48
Bobble-head doll syndrome associated with Dandy-Walker syndrome. Case report. ( 17918536 )
2007
49
Dandy-Walker syndrome and chromosomal abnormalities. ( 17988252 )
2007
50
Dandy-Walker syndrome in adult mimicking myasthenia gravis. ( 17420852 )
2007

Variations for Dandy-Walker Syndrome

ClinVar genetic disease variations for Dandy-Walker Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
2 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
3 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh38 Chromosome 17, 2039760: 2039760
4 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh37 Chromosome 17, 1943054: 1943054
5 TMEM47 NM_031442.3(TMEM47): c.35G> C (p.Arg12Pro) single nucleotide variant Likely pathogenic rs1114167296 GRCh37 Chromosome X, 34675112: 34675112
6 TMEM47 NM_031442.3(TMEM47): c.35G> C (p.Arg12Pro) single nucleotide variant Likely pathogenic rs1114167296 GRCh38 Chromosome X, 34656995: 34656995
7 MAGED2 NM_201222.2(MAGED2): c.1003delC (p.Gln335Asnfs) deletion Likely pathogenic rs1114167295 GRCh38 Chromosome X, 54812169: 54812169
8 MAGED2 NM_201222.2(MAGED2): c.1003delC (p.Gln335Asnfs) deletion Likely pathogenic rs1114167295 GRCh37 Chromosome X, 54838602: 54838602

Expression for Dandy-Walker Syndrome

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

Pathways for Dandy-Walker Syndrome

GO Terms for Dandy-Walker Syndrome

Sources for Dandy-Walker Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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