DWM
MCID: DND001
MIFTS: 44

Dandy-Walker Syndrome (DWM) malady

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

Aliases & Classifications for Dandy-Walker Syndrome

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Aliases & Descriptions for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 52 11 24 25 49 12 39 13 68
Dandy-Walker Malformation 24 25 27 50
Dwm 24 25
Hydrocephalus, Noncommunicating, Dandy-Walker Type 25
Atresia of Foramina of Magendie and Luschka 11
Hydrocephalus, Internal, Dandy-Walker Type 25
Isolated Dandy-Walker Malformation 54
Luschka-Magendie Foramina Atresia 25
 
Dandy-Walker Deformity 25
Dandy-Walker Complex 25
Dandy Walker Variant 68
Dandy-Walker Variant 27
Dandy-Walker Cyst 25
Dandy Walker Cyst 68
Dws 25

Characteristics:

Orphanet epidemiological data:

54
isolated dandy-walker malformation:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

64
dandy-walker syndrome:
Inheritance: heterogeneous

Classifications:



External Ids:

OMIM52 220200
Disease Ontology11 DOID:2785
ICD1030 Q03.1
MeSH39 D003616
SNOMED-CT62 14447001, 204063009
NCIt45 C75012
Orphanet54 ORPHA217
ICD10 via Orphanet31 Q03.1

Summaries for Dandy-Walker Syndrome

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NINDS:49 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 cerebellar ataxia, cerebellar ataxia and Array. An important gene associated with Dandy-Walker Syndrome is DWS (Dandy-Walker Syndrome). Affiliated tissues include brain, cerebellum and heart.

Disease Ontology:11 A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.

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

Wikipedia:71 Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations. There are... 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 top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1dandy-walker malformation with intellectual disability, basal ganglia disease and seizures12.4
2dandy-walker malformation with postaxial polydactyly12.4
3dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy12.3
4dandy-walker malformation with sagittal craniosynostosis and hydrocephalus12.2
5dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis12.2
6dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia12.2
7isolated dandy-walker malformation without hydrocephalus12.2
8isolated dandy-walker malformation with hydrocephalus12.2
9spinal muscular atrophy-dandy-walker malformation-cataracts syndrome12.2
10mental retardation, x-linked syndromic 512.1
11corpus callosum agenesis11.6
12ritscher-schinzel syndrome11.4
13dandy-walker complex11.2
14hydrocephalus, autosomal dominant11.2
15meckel syndrome 711.1
16acromelic frontonasal dysostosis11.1
17acrocallosal syndrome11.1
18orofaciodigital syndrome i11.1
19hydromyelia11.1
20syringohydromyelia11.1
21hydrocephalus10.3
22meningocele10.3
23arachnoiditis10.0
24syringomyelia10.0
25arachnoid cysts10.0
26encephalocele10.0
27congenital hydrocephalus10.0
28lipoma9.9
29trigeminal neuralgia9.9
30bipolar disorder9.9
31breast reconstruction9.9
32hemangioma9.9
33myasthenia gravis9.9
34osteopetrosis9.9
35renal tubular acidosis9.9
36carnitine palmitoyltransferase ii deficiency9.9
37choroiditis9.9
38polydactyly9.9
39polyneuropathy9.9
40hypothyroidism9.9
41epilepsy9.9
42cutis laxa9.9
43chronic polyneuropathy9.9
44neuropathy9.9
45neurofibromatosis9.9
46diabetes insipidus9.9
47pulmonary embolism9.9
48bobble-head doll syndrome9.9
49cerebrospinal fluid leak9.9
50chiari malformation9.9

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



Diseases related to dandy-walker syndrome

Symptoms & Phenotypes for Dandy-Walker Syndrome

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Symptoms by clinical synopsis from OMIM:

220200

Clinical features from OMIM:

220200

Human phenotypes related to Dandy-Walker Syndrome:

 54 64 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate64 54 Occasional (29-5%) HP:0000175
2 prominent occiput64 54 Very frequent (99-80%) HP:0000269
3 dandy-walker malformation64 54 Very frequent (99-80%) HP:0001305
4 abnormality of the cardiovascular system54 Occasional (29-5%)
5 tetralogy of fallot64 54 Occasional (29-5%) HP:0001636
6 frontal bossing64 54 Frequent (79-30%) HP:0002007
7 encephalocele64 54 Occasional (29-5%) HP:0002084
8 platybasia64 54 Very frequent (99-80%) HP:0002691
9 aplasia/hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0007370
10 hydrocephalus64 HP:0000238
11 nystagmus64 HP:0000639
12 elevated imprint of the transverse sinuses64 HP:0000930
13 thinning and bulging of the posterior fossa bones64 HP:0000931
14 posterior fossa cyst at the fourth ventricle64 HP:0000933
15 truncal ataxia64 HP:0002078
16 dilated fourth ventricle64 HP:0002198
17 agenesis of cerebellar vermis64 HP:0002335
18 partial absence of cerebellar vermis64 HP:0002951
19 cranial nerve paralysis64 HP:0006824

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 Extracts4067

Interventional clinical trials:

idNameStatusNCT IDPhase
1Detection and Quantification of Neonatal Intraventricular HemorrhageCompletedNCT01899651
2Brain Development Research ProgramRecruitingNCT00305305
3Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)RecruitingNCT01016756
4Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

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 Syndrome27 24 ZIC4
2 Dandy-Walker Malformation27

Anatomical Context for Dandy-Walker Syndrome

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MalaCards organs/tissues related to Dandy-Walker Syndrome:

36
Brain, Cerebellum, Heart, Spinal cord, Eye, Bone, Breast

Publications for Dandy-Walker Syndrome

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Articles related to Dandy-Walker Syndrome:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
Bilateral Macular Edema: A New Ocular Feature of Dandy-Walker Syndrome. (27077329)
2016
2
Dandy Walker Syndrome: A Rare Presentation in Adult. (27766825)
2016
3
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-SjAPgren syndrome and Dandy-Walker syndrome. (27106665)
2016
4
Dandy Walker syndrome with giant occipital meningocele with craniovertebral anomalies: Challenges faced during anaesthesia. (26962265)
2016
5
A rare case of giant occipital meningocele with Dandy Walker Syndrome: Can it grow bigger than this? (28217162)
2016
6
Mortality of Dandy-Walker syndrome in the United States: Analysis by race, gender, and insurance status. (25883477)
2015
7
Dandy-Walker syndrome with severe velopharyngeal dysfunction: a contraindication for Le Fort I surgery? (25565232)
2015
8
Bipolar Disorder in a Young Girl with Dandy-Walker Syndrome. (26877755)
2015
9
Rapid resolution of an acute subdural hematoma in Dandy Walker syndrome. (25948011)
2015
10
The natural history of Dandy-Walker syndrome in the United States: A population-based analysis. (25552847)
2015
11
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. (25861538)
2015
12
PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome. (26053730)
2015
13
Long-term follow-up of successful treatment for dandy-walker syndrome (DWS). (26770421)
2015
14
Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report. (24712511)
2014
15
Phase-based treatment of a complex severely mentally ill case involving complex posttraumatic stress disorder and psychosis related to Dandy Walker syndrome. (24983777)
2014
16
Asymptomatic Dandy-Walker syndrome in an adult. (25584127)
2014
17
Dandy-Walker syndrome with psychotic symptoms: a case report. (24770576)
2014
18
Central brain herniation in Dandy-Walker syndrome. (23801502)
2013
19
Anesthetic management of an adolescent with Dandy-Walker syndrome. (23460934)
2013
20
Trigeminal neuralgia due to Dandy-Walker syndrome. (23851831)
2013
21
A case series of 12 patients with incidental asymptomatic Dandy-Walker syndrome and management. (22476659)
2012
22
Cochlear implantation in patient with Dandy-walker syndrome. (25991966)
2012
23
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
24
Ultrasonographic evaluation of the peripheral nerves in a patient with chronic neuropathy and dandy-walker syndrome. (22157500)
2012
25
Invalidating headaches as a symptom of pulmonary embolism in a Dandy-Walker syndrome with ventriculoatrial shunt. (21749565)
2011
26
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
27
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. (21641254)
2011
28
Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome. (20951360)
2010
29
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. (19645988)
2009
30
Racial disparities in mortality among infants with Dandy-Walker syndrome. (19476199)
2009
31
Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. (18979394)
2008
32
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. (18648217)
2008
33
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. (18453959)
2008
34
Dandy-Walker syndrome. (18700642)
2008
35
Dandy-Walker syndrome together with occipital encephalocele. (18511899)
2008
36
Surgical treatment of 13 pediatric patients with Dandy-Walker syndrome. (17785999)
2007
37
Dandy-Walker syndrome in adult mimicking myasthenia gravis. (17420852)
2007
38
Bobble-head doll syndrome associated with Dandy-Walker syndrome. Case report. (17918536)
2007
39
Dandy-Walker syndrome and chromosomal abnormalities. (17988252)
2007
40
A rare embryological malformation of brain - Dandy-Walker syndrome - and its association with Kallmann's syndrome. (17627258)
2007
41
Dandy-Walker syndrome with postaxial polydactyly associated with facial dysmorphism and bone abnormalities. (16970046)
2006
42
Familial Dandy-Walker syndrome: a case report supporting an autosomal inheritance. (16261385)
2006
43
Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. (16195680)
2005
44
Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. (15849798)
2005
45
Giant occipital meningocele as a presenting feature of Dandy-Walker syndrome. (15347883)
2004
46
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
47
Prenatal diagnosis of Dandy-Walker syndrome in early pregnancy presenting with increased nuchal translucency and generalized edema at 13 weeks of gestation. (12813770)
2003
48
Old age presentation of the Dandy-Walker syndrome associated with unilateral sudden sensorineural deafness and vertigo. (11827588)
2002
49
Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome. (11669349)
2001
50
Dandy-Walker syndrome: different modalities of treatment and outcome in 42 cases. (11417415)
2001

Variations for Dandy-Walker Syndrome

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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet