MCID: DND001
MIFTS: 44

Dandy-Walker Syndrome malady

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

Aliases & Classifications for Dandy-Walker Syndrome

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Aliases & Descriptions for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 51 11 24 25 48 12 38 13 67
Dandy-Walker Malformation 24 25 26 49
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 53
Luschka-Magendie Foramina Atresia 25
 
Dandy-Walker Deformity 25
Dandy-Walker Variant 26
Dandy-Walker Complex 25
Dandy Walker Variant 67
Dandy-Walker Cyst 25
Dandy Walker Cyst 67
Dws 25

Characteristics:

Orphanet epidemiological data:

53
isolated dandy-walker malformation:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

63
dandy-walker syndrome:
Inheritance: heterogeneous

Classifications:



External Ids:

OMIM51 220200
Disease Ontology11 DOID:2785
ICD1029 Q03.1
MeSH38 D003616
SNOMED-CT61 14447001, 204063009
NCIt44 C75012
Orphanet53 ORPHA217
ICD10 via Orphanet30 Q03.1

Summaries for Dandy-Walker Syndrome

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NINDS:48 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 prominent occiput, dandy-walker malformation and abnormality of the vertebrae. 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:51 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of... (220200) more...

Wikipedia:70 Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations. There are three... 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 seizures12.4
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
11ritscher-schinzel syndrome11.4
12dandy-walker complex11.2
13meckel syndrome 711.2
14acromelic frontonasal dysostosis11.2
15acrocallosal syndrome11.2
16orofaciodigital syndrome i11.2
17hydrocephalus, autosomal dominant11.2
18hydrocephalus10.3
19meningocele10.2
20arachnoiditis10.0
21syringomyelia10.0
22arachnoid cysts10.0
23encephalocele10.0
24congenital hydrocephalus10.0
25lipoma9.9
26trigeminal neuralgia9.9
27bipolar disorder9.9
28breast reconstruction9.9
29hemangioma9.9
30myasthenia gravis9.9
31osteopetrosis9.9
32renal tubular acidosis9.9
33choroiditis9.9
34polydactyly9.9
35polyneuropathy9.9
36hypothyroidism9.9
37epilepsy9.9
38cutis laxa9.9
39chronic polyneuropathy9.9
40neuropathy9.9
41diabetes insipidus9.9
42pulmonary embolism9.9
43bobble-head doll syndrome9.9
44cerebrospinal fluid leak9.9
45chiari malformation9.9
46corpus callosum agenesis9.9
47head injury9.9
48headache9.9
49occipital encephalocele9.9
50otosclerosis 58.3CPT2, DWS, NDUFA4, PLEKHM1, SOX3

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

Human phenotypes related to Dandy-Walker Syndrome:

 63 53 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent occiput63 53 hallmark (90%) Very frequent (99-80%) HP:0000269
2 dandy-walker malformation63 53 hallmark (90%) Very frequent (99-80%) HP:0001305
3 abnormality of the vertebrae63 hallmark (90%) HP:0003468
4 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
5 abnormality of the urinary system63 occasional (7.5%) HP:0000079
6 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
7 tetralogy of fallot63 53 occasional (7.5%) Occasional (29-5%) HP:0001636
8 encephalocele63 53 occasional (7.5%) Occasional (29-5%) HP:0002084
9 aplasia/hypoplasia of the corpus callosum63 53 occasional (7.5%) Occasional (29-5%) HP:0007370
10 hydrocephalus63 HP:0000238
11 nystagmus63 HP:0000639
12 elevated imprint of the transverse sinuses63 HP:0000930
13 thinning and bulging of the posterior fossa bones63 HP:0000931
14 posterior fossa cyst at the fourth ventricle63 HP:0000933
15 truncal ataxia63 HP:0002078
16 dilated fourth ventricle63 HP:0002198
17 agenesis of cerebellar vermis63 HP:0002335
18 partial absence of cerebellar vermis63 HP:0002951
19 cranial nerve paralysis63 HP:0006824
20 abnormality of the cardiovascular system53 Occasional (29-5%)
21 platybasia53 Very frequent (99-80%)

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 Extracts3868

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 Syndrome26 24
2 Dandy-Walker Malformation26

Anatomical Context for Dandy-Walker Syndrome

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MalaCards organs/tissues related to Dandy-Walker Syndrome:

35
Brain, Cerebellum, Heart, Spinal cord, Eye, Bone, Liver

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 154)
idTitleAuthorsYear
1
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. (25861538)
2015
2
Dandy-Walker syndrome with severe velopharyngeal dysfunction: a contraindication for Le Fort I surgery? (25565232)
2015
3
Central brain herniation in Dandy-Walker syndrome. (23801502)
2013
4
Invalidating headaches as a symptom of pulmonary embolism in a Dandy-Walker syndrome with ventriculoatrial shunt. (21749565)
2011
5
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. (19645988)
2009
6
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. (18648217)
2008
7
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. (18453959)
2008
8
Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. (16195680)
2005
9
Giant occipital meningocele as a presenting feature of Dandy-Walker syndrome. (15347883)
2004
10
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
11
Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. (11822087)
2001
12
Dandy-Walker syndrome: presentation of the congenital malformation in an older patient. (10668314)
2000
13
Dandy-Walker syndrome in association with neurofibromatosis in monozygotic twins. (11533827)
2000
14
Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome. (10505838)
1999
15
Dandy-Walker syndrome successfully treated with cystoperitoneal shunting--case report. (10598445)
1999
16
Dandy-Walker syndrome presenting as opisthotonus: proposed pathophysiology. (8703233)
1996
17
Brainstem tethering in Dandy-Walker syndrome: a complication of cystoperitoneal shunting. Case report. (7490623)
1995
18
Anesthetic management of a neonate with Dandy-Walker syndrome. (23568125)
1994
19
The Dandy-Walker syndrome: the value of antenatal diagnosis. (1555367)
1992
20
Congenital hydrocephalus mimicking Dandy-Walker syndrome induced by 6-aminonicotinamide injection in pregnant rat. (1724296)
1991
21
The Dandy-Walker syndrome: diagnostic and surgical considerations. (1764229)
1991
22
Occipital meningoceles in patients with the Dandy-Walker syndrome. (2067606)
1991
23
The Dandy-Walker syndrome. Relevance to anaesthesia and intensive care. (2205120)
1990
24
Dandy-Walker syndrome: posterior fossa craniectomy and cyst fenestration after several shunt revisions. (2257547)
1990
25
Coexistence of Dandy-Walker syndrome and Down's syndrome. (2524010)
1989
26
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
27
Two cases of Dandy-Walker syndrome and chronic polyneuropathy. (2485913)
1989
28
Dandy-Walker syndrome: a review of fifteen cases evaluated by prenatal sonography. (2669493)
1989
29
Magnetic resonance imaging of an adult with the Dandy-Walker syndrome. (3249328)
1988
30
Dandy-Walker syndrome revisited. (3684815)
1987
31
Antenatal diagnosis and obstetric management of Dandy-Walker syndrome. (3543341)
1986
32
Value of sagittal sonography and direct sagittal CT of the Dandy-Walker syndrome. (6431784)
1984
33
Dandy-Walker syndrome diagnosed in utero. (6682509)
1983
34
Dandy-Walker syndrome studied by computed tomography and pneumoencephalography. (6828713)
1983
35
Dandy-Walker syndrome in consecutive siblings: familial hindbrain malformation. (7279160)
1981
36
The dysraphic state of the posterior fossa. Clinical review of the Dandy-Walker syndrome and the so-called arachnoid cysts. (536750)
1979
37
Dandy-Walker syndrome with patency of the foramina of Luschka and Magendie. A case report. (536751)
1979
38
Adult onset of the Dandy-Walker syndrome. (697607)
1978
39
Problems of diagnosis and treatment in the Dandy-Walker syndrome. (1031844)
1976
40
Dandy-Walker syndrome associated with congenital heart defects: report of three cases. (1060596)
1975
41
The so-called Dandy-Walker syndrome: analysis of 12 operated cases. (1081031)
1975
42
Respiration in an infant with the Dandy-Walker syndrome. (4472854)
1974
43
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
44
The Dandy-Walker syndrome associated with syringomyelia in a newborn infant. (5550205)
1971
45
The Dandy-Walker syndrome--a case with a patent foramen of the 4th ventricle demonstrated by encephalography. (5311897)
1970
46
X-ray of the month. The Dandy-Walker syndrome. (5351754)
1969
47
Radiographic diagnosis of the Dandy-Walker syndrome with the emphasis on angiography. (5304551)
1969
48
CLINICAL PATHOLOGICAL CONFERENCE: THE DANDY-WALKER SYNDROME. (14105052)
1964
49
The Dandy-Walker syndrome. A report of three cases. (13752182)
1961
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)SNVLikely pathogenic, Pathogenicrs730882250GRCh38Chr 17, 2039760: 2039760

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet