MCID: DND001
MIFTS: 44

Dandy-Walker Syndrome

Categories: Neuronal diseases, Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dandy-Walker Syndrome

MalaCards integrated aliases for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 54 12 24 25 51 29 13 42 14 69
Dandy-Walker Malformation 24 25 29 52
Dwm 24 25
Hydrocephalus, Noncommunicating, Dandy-Walker Type 25
Atresia of Foramina of Magendie and Luschka 12
Hydrocephalus, Internal, Dandy-Walker Type 25
Isolated Dandy-Walker Malformation 56
Luschka-Magendie Foramina Atresia 25
Dandy-Walker Deformity 25
Dandy-Walker Complex 25
Dandy-Walker Cyst 25
Dandy Walker Cyst 69
Dws 25

Characteristics:

Orphanet epidemiological data:

56
isolated dandy-walker malformation
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
isolated cases


HPO:

32
dandy-walker syndrome:
Inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 220200
Disease Ontology 12 DOID:2785
ICD10 33 Q03.1
MeSH 42 D003616
NCIt 47 C75012
SNOMED-CT 64 14447001 204063009
Orphanet 56 ORPHA217
UMLS via Orphanet 70 C0010964
ICD10 via Orphanet 34 Q03.1
UMLS 69 C0010964

Summaries for Dandy-Walker Syndrome

NINDS : 51 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 cleft palate, frontal bossing and tetralogy of fallot. 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.

Genetics Home Reference : 25 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 : 54
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)

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.

Wikipedia : 72 Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations. There are three... more...

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 56)
id Related Disease Score Top Affiliating Genes
1 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.6
2 dandy-walker malformation with postaxial polydactyly 12.6
3 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.5
4 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy 12.2
5 isolated dandy-walker malformation without hydrocephalus 12.2
6 isolated dandy-walker malformation with hydrocephalus 12.2
7 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.2
8 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 12.2
9 mental retardation, x-linked syndromic 5 12.0
10 corpus callosum agenesis 11.5
11 ritscher-schinzel syndrome 1 11.4
12 acrocallosal syndrome 11.2
13 heart and brain malformation syndrome 11.2
14 hydrocephalus, autosomal dominant 11.2
15 meckel syndrome 7 11.1
16 acromelic frontonasal dysostosis 11.1
17 x-linked sideroblastic anemia with ataxia 11.1
18 orofaciodigital syndrome i 11.1
19 otopalatodigital syndrome, type ii 11.1
20 oculocerebral syndrome with hypopigmentation 11.1
21 dandy-walker complex 11.1
22 hydromyelia 11.1
23 syringohydromyelia 11.1
24 hydrocephalus 10.3
25 meningocele 10.3
26 syringomyelia 10.0
27 congenital hydrocephalus 10.0
28 arachnoid cysts 10.0
29 arachnoiditis 10.0
30 encephalocele 10.0
31 breast reconstruction 9.9
32 cutis laxa 9.9
33 head injury 9.9
34 hemangioma 9.9
35 headache 9.9
36 chronic polyneuropathy 9.9
37 myasthenia gravis 9.9
38 neuropathy 9.9
39 osteopetrosis 9.9
40 diabetes insipidus 9.9
41 renal tubular acidosis 9.9
42 pulmonary embolism 9.9
43 occipital encephalocele 9.9
44 carnitine palmitoyltransferase ii deficiency 9.9
45 bobble-head doll syndrome 9.9
46 scoliosis 9.9
47 cerebrospinal fluid leak 9.9
48 chiari malformation 9.9
49 choroiditis 9.9
50 polydactyly 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:

54

Head And Neck- Eyes:
nystagmus

Head And Neck- Head:
bulging occiput

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

Neurologic- Central Nervous System:
hydrocephalus
truncal ataxia
cranial nerve palsies
elevated imprint of the transverse sinuses
partial or complete absence of cerebellar vermis
more
Skeletal- Skull:
thinning and bulging of posterior fossa bones


Clinical features from OMIM:

220200

Human phenotypes related to Dandy-Walker Syndrome:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
3 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
4 dandy-walker malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001305
5 prominent occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0000269
6 encephalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0002084
7 platybasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002691
8 aplasia/hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007370
9 nystagmus 32 HP:0000639
10 hydrocephalus 32 HP:0000238
11 truncal ataxia 32 HP:0002078
12 agenesis of cerebellar vermis 32 HP:0002335
13 elevated imprint of the transverse sinuses 32 HP:0000930
14 posterior fossa cyst at the fourth ventricle 32 HP:0000933
15 dilated fourth ventricle 32 HP:0002198
16 cranial nerve paralysis 32 HP:0006824
17 abnormality of the cardiovascular system 56 Occasional (29-5%)
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

Drugs & Therapeutics for Dandy-Walker Syndrome

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


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

Interventional clinical trials:


id 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 Recruiting NCT00068224
4 Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies) Recruiting NCT01016756

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:

id Genetic test Affiliating Genes
1 Dandy-Walker Syndrome 29 24
2 Dandy-Walker Malformation 29

Anatomical Context for Dandy-Walker Syndrome

MalaCards organs/tissues related to Dandy-Walker Syndrome:

39
Brain, Cerebellum, Heart, Spinal Cord, Eye, Bone, Liver

Publications for Dandy-Walker Syndrome

Articles related to Dandy-Walker Syndrome:

(show top 50) (show all 159)
id Title Authors Year
1
The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports. ( 28635420 )
2017
2
Foveal hypoplasia associated with Dandy-Walker syndrome. ( 28774532 )
2017
3
Psychosis in a Case of Dandy-Walker Syndrome: A Case Report. ( 28658885 )
2017
4
Scoliosis correction in an adolescent patient with Dandy-Walker syndrome: A case report. ( 28757843 )
2017
5
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-SjAPgren syndrome and Dandy-Walker syndrome. ( 27106665 )
2016
6
Dandy Walker Syndrome: A Rare Presentation in Adult. ( 27766825 )
2016
7
A rare case of giant occipital meningocele with Dandy Walker Syndrome: Can it grow bigger than this? ( 28217162 )
2016
8
Bilateral Macular Edema: A New Ocular Feature of Dandy-Walker Syndrome. ( 27077329 )
2016
9
Dandy Walker syndrome with giant occipital meningocele with craniovertebral anomalies: Challenges faced during anaesthesia. ( 26962265 )
2016
10
PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome. ( 26053730 )
2015
11
The natural history of Dandy-Walker syndrome in the United States: A population-based analysis. ( 25552847 )
2015
12
Long-term follow-up of successful treatment for dandy-walker syndrome (DWS). ( 26770421 )
2015
13
Rapid resolution of an acute subdural hematoma in Dandy Walker syndrome. ( 25948011 )
2015
14
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. ( 25861538 )
2015
15
Mortality of Dandy-Walker syndrome in the United States: Analysis by race, gender, and insurance status. ( 25883477 )
2015
16
Dandy-Walker syndrome with severe velopharyngeal dysfunction: a contraindication for Le Fort I surgery? ( 25565232 )
2015
17
Bipolar Disorder in a Young Girl with Dandy-Walker Syndrome. ( 26877755 )
2015
18
Asymptomatic Dandy-Walker syndrome in an adult. ( 25584127 )
2014
19
Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report. ( 24712511 )
2014
20
Dandy-Walker syndrome with psychotic symptoms: a case report. ( 24770576 )
2014
21
Phase-based treatment of a complex severely mentally ill case involving complex posttraumatic stress disorder and psychosis related to Dandy Walker syndrome. ( 24983777 )
2014
22
Anesthetic management of an adolescent with Dandy-Walker syndrome. ( 23460934 )
2013
23
Trigeminal neuralgia due to Dandy-Walker syndrome. ( 23851831 )
2013
24
Central brain herniation in Dandy-Walker syndrome. ( 23801502 )
2013
25
Ultrasonographic evaluation of the peripheral nerves in a patient with chronic neuropathy and dandy-walker syndrome. ( 22157500 )
2012
26
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
27
Cochlear implantation in patient with Dandy-walker syndrome. ( 25991966 )
2012
28
A case series of 12 patients with incidental asymptomatic Dandy-Walker syndrome and management. ( 22476659 )
2012
29
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. ( 21641254 )
2011
30
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
31
Invalidating headaches as a symptom of pulmonary embolism in a Dandy-Walker syndrome with ventriculoatrial shunt. ( 21749565 )
2011
32
Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome. ( 20951360 )
2010
33
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. ( 19645988 )
2009
34
Racial disparities in mortality among infants with Dandy-Walker syndrome. ( 19476199 )
2009
35
Dandy-Walker syndrome. ( 18700642 )
2008
36
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. ( 18648217 )
2008
37
Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. ( 18979394 )
2008
38
Dandy-Walker syndrome together with occipital encephalocele. ( 18511899 )
2008
39
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. ( 18453959 )
2008
40
Surgical treatment of 13 pediatric patients with Dandy-Walker syndrome. ( 17785999 )
2007
41
Dandy-Walker syndrome and chromosomal abnormalities. ( 17988252 )
2007
42
Bobble-head doll syndrome associated with Dandy-Walker syndrome. Case report. ( 17918536 )
2007
43
A rare embryological malformation of brain - Dandy-Walker syndrome - and its association with Kallmann's syndrome. ( 17627258 )
2007
44
Dandy-Walker syndrome in adult mimicking myasthenia gravis. ( 17420852 )
2007
45
Familial Dandy-Walker syndrome: a case report supporting an autosomal inheritance. ( 16261385 )
2006
46
Dandy-Walker syndrome with postaxial polydactyly associated with facial dysmorphism and bone abnormalities. ( 16970046 )
2006
47
Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. ( 16195680 )
2005
48
Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. ( 15849798 )
2005
49
Giant occipital meningocele as a presenting feature of Dandy-Walker syndrome. ( 15347883 )
2004
50
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. ( 12892171 )
2003

Variations for Dandy-Walker Syndrome

ClinVar genetic disease variations for Dandy-Walker Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh38 Chromosome 17, 2039760: 2039760

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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