MCID: DND001
MIFTS: 42

Dandy-Walker Syndrome 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 50 11 23 24 47 13 12 37 66
Dandy-Walker Malformation 23 24 25 48
Dwm 23 24
Hydrocephalus, Noncommunicating, Dandy-Walker Type 24
Atresia of Foramina of Magendie and Luschka 11
Hydrocephalus, Internal, Dandy-Walker Type 24
Isolated Dandy-Walker Malformation 52
 
Luschka-Magendie Foramina Atresia 24
Dandy-Walker Deformity 24
Dandy-Walker Variant 25
Dandy-Walker Complex 24
Dandy-Walker Cyst 24
Dandy Walker Cyst 66
Dws 24

Characteristics:

Orphanet epidemiological data:

52
isolated dandy-walker malformation:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

62
dandy-walker syndrome:
Inheritance: heterogeneous


Classifications:



External Ids:

OMIM50 220200
Disease Ontology11 DOID:2785
ICD1028 Q03.1
MeSH37 D003616
SNOMED-CT60 14447001, 204063009
NCIt43 C75012
Orphanet52 ORPHA217
ICD10 via Orphanet29 Q03.1

Summaries for Dandy-Walker Syndrome

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NINDS:47 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:24 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:50 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of... (220200) more...

Wikipedia:69 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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1dandy-walker malformation with intellectual disability, basal ganglia disease and seizures12.6
2dandy-walker malformation with postaxial polydactyly12.5
3dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy12.4
4dandy-walker malformation with sagittal craniosynostosis and hydrocephalus12.3
5dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia12.3
6dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis12.3
7dandy-walker malformation with facial hemangioma12.3
8isolated dandy-walker malformation without hydrocephalus12.3
9isolated dandy-walker malformation with hydrocephalus12.3
10spinal muscular atrophy-dandy-walker malformation-cataracts syndrome12.3
11mental retardation, x-linked syndromic 511.9
12meckel syndrome 711.6
13dandy-walker complex11.3
14hydrocephalus, autosomal dominant11.3
15corpus callosum agenesis10.7
16hydrocephalus10.4
17meningocele10.3
18arachnoiditis10.1
19syringomyelia10.1
20arachnoid cysts10.1
21encephalocele10.1
22congenital hydrocephalus10.1
23lipoma10.0
24trigeminal neuralgia10.0
25bipolar disorder10.0
26breast reconstruction10.0
27hemangioma10.0
28myasthenia gravis10.0
29osteopetrosis10.0
30renal tubular acidosis10.0
31carnitine palmitoyltransferase ii deficiency10.0
32choroiditis10.0
33polydactyly10.0
34polyneuropathy10.0
35hypothyroidism10.0
36epilepsy10.0
37cutis laxa10.0
38chronic polyneuropathy10.0
39neuropathy10.0
40neurofibromatosis10.0
41diabetes insipidus10.0
42pulmonary embolism10.0
43chiari malformation10.0
44bobble-head doll syndrome10.0
45cerebrospinal fluid leak10.0
46head injury10.0
47headache10.0
48occipital encephalocele10.0
49mckusick type metaphyseal dysplasia9.5SOX3, ZIC2
50gastric antral vascular ectasia9.2SOX3, ZIC2

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

Symptoms:

 52 (show all 9)
  • cleft palate
  • prominent occiput
  • dandy-walker malformation
  • abnormality of the cardiovascular system
  • tetralogy of fallot
  • frontal bossing
  • encephalocele
  • platybasia
  • aplasia/hypoplasia of the corpus callosum

HPO human phenotypes related to Dandy-Walker Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 prominent occiput hallmark (90%) HP:0000269
2 dandy-walker malformation hallmark (90%) HP:0001305
3 abnormality of the vertebrae hallmark (90%) HP:0003468
4 frontal bossing typical (50%) HP:0002007
5 abnormality of the urinary system occasional (7.5%) HP:0000079
6 cleft palate occasional (7.5%) HP:0000175
7 tetralogy of fallot occasional (7.5%) HP:0001636
8 encephalocele occasional (7.5%) HP:0002084
9 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
10 hydrocephalus HP:0000238
11 nystagmus HP:0000639
12 elevated imprint of the transverse sinuses HP:0000930
13 thinning and bulging of the posterior fossa bones HP:0000931
14 posterior fossa cyst at the fourth ventricle HP:0000933
15 truncal ataxia HP:0002078
16 dilated fourth ventricle HP:0002198
17 agenesis of cerebellar vermis HP:0002335
18 partial absence of cerebellar vermis HP:0002951
19 cranial nerve paralysis HP:0006824

UMLS symptoms related to Dandy-Walker Syndrome:


cerebellar ataxia

Drugs & Therapeutics for Dandy-Walker Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
2Brain Development Research ProgramRecruitingNCT00305305
3Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)RecruitingNCT01016756
4Detection and Quantification of Neonatal Intraventricular HemorrhageEnrolling by invitationNCT01899651

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 Syndrome25 23
2 Dandy-Walker Malformation25

Anatomical Context for Dandy-Walker Syndrome

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MalaCards organs/tissues related to Dandy-Walker Syndrome:

34
Brain, Cerebellum, Heart, Spinal cord, Eye, Bone, Breast

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 153)
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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet