MCID: DND001
MIFTS: 41

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 53 12 50 36 28 13 41 14 69
Atresia of Foramina of Magendie and Luschka 12
Isolated Dandy-Walker Malformation 55
Dws 53

Characteristics:

Orphanet epidemiological data:

55
isolated dandy-walker malformation
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
isolated cases


HPO:

31
dandy-walker syndrome:
Inheritance heterogeneous sporadic


Classifications:



External Ids:

OMIM 53 220200
Disease Ontology 12 DOID:2785
ICD10 32 Q03.1
MeSH 41 D003616
NCIt 46 C75012
SNOMED-CT 64 14447001 204063009
Orphanet 55 ORPHA217
UMLS via Orphanet 70 C0010964
ICD10 via Orphanet 33 Q03.1
MedGen 39 C0010964
KEGG 36 H01678
UMLS 69 C0010964

Summaries for Dandy-Walker Syndrome

NINDS : 50 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 isolated dandy-walker malformation without hydrocephalus and isolated dandy-walker malformation with hydrocephalus, and has symptoms including frontal bossing, cleft palate and prominent occiput. 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, heart and cerebellum.

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 : 53 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)

Related Diseases for Dandy-Walker Syndrome

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 isolated dandy-walker malformation without hydrocephalus 12.4
2 isolated dandy-walker malformation with hydrocephalus 12.4
3 corpus callosum, agenesis of 11.6
4 dandy-walker complex 11.4
5 hydromyelia 11.2
6 syringohydromyelia 11.2
7 hydrocephalus 10.4
8 meningocele 10.3
9 melanosis, neurocutaneous 10.1
10 hydrops, lactic acidosis, and sideroblastic anemia 10.1
11 scoliosis 10.1
12 arachnoiditis 10.1
13 syringomyelia 10.1
14 arachnoid cysts 10.1
15 encephalocele 10.1
16 blood group, i system 9.9
17 diabetes insipidus, neurohypophyseal 9.9
18 lipomatosis, multiple 9.9
19 neurofibromatosis, type iv, of riccardi 9.9
20 trigeminal neuralgia 9.9
21 joubert syndrome 1 9.9
22 myasthenia gravis 9.9
23 aging 9.9
24 carnitine palmitoyltransferase ii deficiency, infantile 9.9
25 branchiootic syndrome 1 9.9
26 polydactyly 9.9
27 bipolar disorder 9.9
28 breast reconstruction 9.9
29 hemangioma 9.9
30 osteopetrosis 9.9
31 renal tubular acidosis 9.9
32 heart disease 9.9
33 choroiditis 9.9
34 polyneuropathy 9.9
35 hypothyroidism 9.9
36 epilepsy 9.9
37 central nervous system origin vertigo 9.9
38 cutis laxa 9.9
39 turner syndrome 9.9
40 macular retinal edema 9.9
41 chronic polyneuropathy 9.9
42 neuropathy 9.9
43 diabetes insipidus 9.9
44 pulmonary embolism 9.9
45 bobble-head doll syndrome 9.9
46 cerebrospinal fluid leak 9.9
47 chiari malformation 9.9
48 myasthenia gravis congenital 9.9
49 head injury 9.9
50 headache 9.9

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:

53
Neurologic Central Nervous System:
hydrocephalus
truncal ataxia
cranial nerve palsies
elevated imprint of the transverse sinuses
partial or complete absence of cerebellar vermis
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:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
2 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
3 prominent occiput 55 31 hallmark (90%) Very frequent (99-80%) HP:0000269
4 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
5 platybasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002691
6 aplasia/hypoplasia of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007370
7 dandy-walker malformation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001305
8 encephalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002084
9 hydrocephalus 31 HP:0000238
10 nystagmus 31 HP:0000639
11 cranial nerve paralysis 31 HP:0006824
12 abnormality of the cardiovascular system 55 Occasional (29-5%)
13 truncal ataxia 31 HP:0002078
14 agenesis of cerebellar vermis 31 HP:0002335
15 elevated imprint of the transverse sinuses 31 HP:0000930
16 posterior fossa cyst at the fourth ventricle 31 HP:0000933
17 dilated fourth ventricle 31 HP:0002198
18 thinning and bulging of the posterior fossa bones 31 HP:0000931
19 partial absence of cerebellar vermis 31 HP:0002951

UMLS symptoms related to Dandy-Walker Syndrome:


ataxia, truncal, cerebellar ataxia

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 28

Anatomical Context for Dandy-Walker Syndrome

MalaCards organs/tissues related to Dandy-Walker Syndrome:

38
Brain, Heart, Cerebellum, Eye, Spinal Cord, Bone, Liver

Publications for Dandy-Walker Syndrome

Articles related to Dandy-Walker Syndrome:

(show top 50) (show all 165)
# Title Authors Year
1
Psychosis in a Case of Dandy-Walker Syndrome: A Case Report. ( 28658885 )
2017
2
Dandy-Walker syndrome with duplex kidney abnormalities in trisomy 18 - A rare case report. ( 29037562 )
2017
3
X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report. ( 29177011 )
2017
4
Case 6: Ascites in a 20-year-old Man with Dandy-Walker Syndrome, Hydrocephalus, and Ventriculoperitoneal Shunt. ( 28972056 )
2017
5
Paediatric Salzmann's nodular degeneration in Dandy-Walker syndrome variant. ( 29165863 )
2017
6
The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports. ( 28635420 )
2017
7
Scoliosis correction in an adolescent patient with Dandy-Walker syndrome: A case report. ( 28757843 )
2017
8
Scoliosis in Dandy-Walker syndrome: a case report and review of literature. ( 29354751 )
2017
9
Foveal hypoplasia associated with Dandy-Walker syndrome. ( 28774532 )
2017
10
Dandy Walker Syndrome: A Rare Presentation in Adult. ( 29319270 )
2017
11
Dandy Walker syndrome with giant occipital meningocele with craniovertebral anomalies: Challenges faced during anaesthesia. ( 26962265 )
2016
12
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-SjAPgren syndrome and Dandy-Walker syndrome. ( 27106665 )
2016
13
A rare case of giant occipital meningocele with Dandy Walker Syndrome: Can it grow bigger than this? ( 28217162 )
2016
14
Bilateral Macular Edema: A New Ocular Feature of Dandy-Walker Syndrome. ( 27077329 )
2016
15
Dandy Walker Syndrome: A Rare Presentation in Adult. ( 27766825 )
2016
16
Bipolar Disorder in a Young Girl with Dandy-Walker Syndrome. ( 26877755 )
2015
17
PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome. ( 26053730 )
2015
18
Rapid resolution of an acute subdural hematoma in Dandy Walker syndrome. ( 25948011 )
2015
19
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. ( 25861538 )
2015
20
Dandy-Walker syndrome with severe velopharyngeal dysfunction: a contraindication for Le Fort I surgery? ( 25565232 )
2015
21
The natural history of Dandy-Walker syndrome in the United States: A population-based analysis. ( 25552847 )
2015
22
Mortality of Dandy-Walker syndrome in the United States: Analysis by race, gender, and insurance status. ( 25883477 )
2015
23
Long-term follow-up of successful treatment for dandy-walker syndrome (DWS). ( 26770421 )
2015
24
Phase-based treatment of a complex severely mentally ill case involving complex posttraumatic stress disorder and psychosis related to Dandy Walker syndrome. ( 24983777 )
2014
25
Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report. ( 24712511 )
2014
26
Dandy-Walker syndrome with psychotic symptoms: a case report. ( 24770576 )
2014
27
Asymptomatic Dandy-Walker syndrome in an adult. ( 25584127 )
2014
28
Anesthetic management of an adolescent with Dandy-Walker syndrome. ( 23460934 )
2013
29
Central brain herniation in Dandy-Walker syndrome. ( 23801502 )
2013
30
Trigeminal neuralgia due to Dandy-Walker syndrome. ( 23851831 )
2013
31
A case series of 12 patients with incidental asymptomatic Dandy-Walker syndrome and management. ( 22476659 )
2012
32
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
33
Ultrasonographic evaluation of the peripheral nerves in a patient with chronic neuropathy and dandy-walker syndrome. ( 22157500 )
2012
34
Cochlear implantation in patient with Dandy-walker syndrome. ( 25991966 )
2012
35
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
36
Invalidating headaches as a symptom of pulmonary embolism in a Dandy-Walker syndrome with ventriculoatrial shunt. ( 21749565 )
2011
37
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. ( 21641254 )
2011
38
Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome. ( 20951360 )
2010
39
Racial disparities in mortality among infants with Dandy-Walker syndrome. ( 19476199 )
2009
40
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. ( 19645988 )
2009
41
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. ( 18453959 )
2008
42
Dandy-Walker syndrome. ( 18700642 )
2008
43
Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. ( 18979394 )
2008
44
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. ( 18648217 )
2008
45
Dandy-Walker syndrome together with occipital encephalocele. ( 18511899 )
2008
46
Surgical treatment of 13 pediatric patients with Dandy-Walker syndrome. ( 17785999 )
2007
47
Dandy-Walker syndrome in adult mimicking myasthenia gravis. ( 17420852 )
2007
48
A rare embryological malformation of brain - Dandy-Walker syndrome - and its association with Kallmann's syndrome. ( 17627258 )
2007
49
Bobble-head doll syndrome associated with Dandy-Walker syndrome. Case report. ( 17918536 )
2007
50
Dandy-Walker syndrome and chromosomal abnormalities. ( 17988252 )
2007

Variations for Dandy-Walker Syndrome

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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