DWM
MCID: DND005
MIFTS: 38

Dandy-Walker Complex (DWM)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dandy-Walker Complex

MalaCards integrated aliases for Dandy-Walker Complex:

Name: Dandy-Walker Complex 53 25
Dandy-Walker Malformation 25 55
Dandy-Walker Syndrome 25 73
Hydrocephalus, Noncommunicating, Dandy-Walker Type 25
Hydrocephalus, Internal, Dandy-Walker Type 25
Dandy-Walker Syndrome or Malformation 53
Luschka-Magendie Foramina Atresia 25
Dandy-Walker Deformity 25
Syndrome, Dandy-Walker 40
Dandy-Walker Variant 53
Dandy Walker Variant 73
Mega Cisterna Magna 53
Mega-Cisterna Magna 59
Dandy-Walker Cyst 25
Dandy Walker Cyst 73
Dw Complex 53
Dws 25
Dwm 25

Classifications:



External Ids:

Orphanet 59 ORPHA97252
UMLS via Orphanet 74 C3164501
ICD10 via Orphanet 34 Q07.8

Summaries for Dandy-Walker Complex

NIH Rare Diseases : 53 Dandy-Walker complex is a group of disorders that affect the development of the brain. The changes in brain development are present from birth (congenital). Dandy-Walker complex affects the formation of the area of the brain known as the cerebellum, which is responsible for coordinating movement, and the fluid-filled spaces around it. People with Dandy-Walker complex may have a portion of the brain called the cerebellar vermis that is smaller than expected (hypoplastic) or completely absent (aplastic). The cerebellar vermis is the area of the brain between the two halves of the cerebellum.  People with Dandy-Walker complex have a larger than expected fourth ventricle of the brain. This ventricle allows fluid to flow between the upper and lower areas of the brain and spinal cord. People with Dandy-Walker complex may have an enlarged portion of the base of the skull (posterior fossa). Dandy-Walker complex may be more common in females than in males. Dandy-Walker complex is a group of disorders that have overlapping symptoms. These disorders include:Dandy-Walker malformation (also known as Dandy-Walker syndrome): having a small cerebellar vermis, large fourth ventricle, and enlarged posterior fossa Isolated cerebellar vermis hypoplasia (sometimes known as Dandy-Walker variant): having a small cerebellar vermis without other features of Dandy-Walker complex Mega-cisterna magna: having an enlarged posterior fossa with a typically developed cerebellum. This may be a normal variant and may not cause any health problems. Posterior fossa arachnoid cyst: the development of a cyst on the posterior fossa without any other features of Dandy-Walker complex Each of these disorders can have separate causes and different long-term outlooks. In order to provide families with more information about the specific developmental differences in the brain and the long-term outlook, a person with Dandy-Walker complex may be given a more specific diagnosis. In some cases, Dandy-Walker complex is caused by an underlying genetic change. These genetic changes may cause Dandy-Walker complex alone, or they may cause Dandy-Walker complex as well as other health problems. In these situations, the complex can run in families. However, in most situations, Dandy-Walker complex is caused by a combination of genetic and environmental factors. Dandy-Walker complex can be diagnosed by imaging of the brain such as ultrasound, CT scan, or MRI scan. Treatment options may include a surgery to place a ventriculoperitoneal shunt that relieves excess fluid from the brain, as well as physical and occupational therapies.

MalaCards based summary : Dandy-Walker Complex, also known as dandy-walker malformation, is related to dandy-walker syndrome and dandy-walker malformation with intellectual disability, basal ganglia disease and seizures, and has symptoms including ataxia, truncal and cerebellar ataxia. An important gene associated with Dandy-Walker Complex is NES (Nestin). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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.

Related Diseases for Dandy-Walker Complex

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

(show top 50) (show all 220)
# Related Disease Score Top Affiliating Genes
1 dandy-walker syndrome 12.9
2 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.9
3 dandy-walker malformation with postaxial polydactyly 12.9
4 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.9
5 port-wine nevi-mega cisterna magna-hydrocephalus syndrome 12.6
6 pettigrew syndrome 12.5
7 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.5
8 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy 12.5
9 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 12.4
10 isolated dandy-walker malformation without hydrocephalus 12.4
11 isolated dandy-walker malformation with hydrocephalus 12.4
12 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.4
13 meckel syndrome, type 7 11.8
14 corpus callosum, agenesis of 11.8
15 marden-walker syndrome 11.7
16 acrocallosal syndrome 11.5
17 heart and brain malformation syndrome 11.5
18 hydrocephalus, autosomal dominant 11.4
19 oculo-cerebral dysplasia 11.4
20 ritscher-schinzel syndrome 1 11.4
21 syringomyelia, noncommunicating isolated 11.4
22 oculocerebral syndrome with hypopigmentation 11.4
23 anemia, sideroblastic, and spinocerebellar ataxia 11.4
24 otopalatodigital syndrome, type ii 11.4
25 orofaciodigital syndrome i 11.4
26 acromelic frontonasal dysostosis 11.4
27 hydrocephalus, congenital, 3, with brain anomalies 11.4
28 ritscher-schinzel syndrome 11.4
29 hydrocephalus-cleft palate-joint contractures syndrome 11.4
30 macrocephaly-short stature-paraplegia syndrome 11.4
31 syringohydromyelia 11.3
32 hydromyelia 11.3
33 perrault syndrome 1 11.1
34 melanosis, neurocutaneous 10.5
35 cleft palate, isolated 10.5
36 tetrasomy 9p 10.4
37 meningocele 10.4
38 hereditary nodular heterotopia 10.4
39 down syndrome 10.4
40 holoprosencephaly 10.4
41 orofaciodigital syndrome 10.4
42 epicanthus 10.3
43 ellis-van creveld syndrome 10.3
44 meckel syndrome, type 1 10.3
45 ptosis 10.3
46 thrombosis 10.3
47 blepharophimosis 10.3
48 leukodystrophy 10.3
49 microcephaly 10.3
50 teratoma 10.3

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



Diseases related to Dandy-Walker Complex

Symptoms & Phenotypes for Dandy-Walker Complex

UMLS symptoms related to Dandy-Walker Complex:


ataxia, truncal, cerebellar ataxia

GenomeRNAi Phenotypes related to Dandy-Walker Complex according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.47 NES
2 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.47 ZNF124
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.47 NES
4 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.47 ZNF124
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.47 NES
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.47 NES
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.47 ZNF124
8 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.47 NES
9 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.47 ZNF124
10 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.47 NES ZNF124
11 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.47 NES
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.47 ZNF124
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.47 ZNF124

Drugs & Therapeutics for Dandy-Walker Complex

Drugs for Dandy-Walker Complex (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 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
3 Brain Development Research Program Recruiting NCT00305305

Search NIH Clinical Center for Dandy-Walker Complex

Genetic Tests for Dandy-Walker Complex

Anatomical Context for Dandy-Walker Complex

MalaCards organs/tissues related to Dandy-Walker Complex:

41
Brain, Cerebellum, Spinal Cord, Kidney, Heart, Tongue, Lung

Publications for Dandy-Walker Complex

Articles related to Dandy-Walker Complex:

(show top 50) (show all 249)
# Title Authors Year
1
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. ( 30534410 )
2019
2
Dandy-Walker malformation and syringomyelia: a rare association. ( 29532167 )
2018
3
Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association. ( 30556660 )
2018
4
Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Patient with Dandy-Walker Malformation. ( 29890274 )
2018
5
Dandy-Walker Malformation-Like Condition Revealed by Refractory Schizophrenia: A Case Report and Literature Review. ( 30448844 )
2018
6
Anatomic variants in Dandy-Walker complex. ( 29250689 )
2017
7
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. ( 28761539 )
2017
8
Dandy-Walker Malformation: A Case Study of an Infant With an Increasing Head Circumference and Delayed Developmental Milestones. ( 28017487 )
2017
9
Dandy-Walker Malformation Presenting with Affective Symptoms. ( 29033643 )
2017
10
An Acquired Form of Dandy-Walker Malformation with Enveloping Hemosiderin Deposits. ( 29209547 )
2017
11
EP01.04: V-mode and B-mode in differential diagnosis among hydrocephalic persistent Blake's pouch, non-HDC persistent Blake's pouch and Dandy-Walker complex. ( 27645624 )
2016
12
Syringomyelia caused by an arachnoid web in a patient with shunted Dandy-Walker malformation. ( 27822765 )
2016
13
Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome. ( 27506516 )
2016
14
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
15
Dandy-Walker Malformation and Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episode Syndrome: Is There a Causal or Coincidental Association? ( 26905003 )
2016
16
"Acquired" Dandy-Walker malformation and cerebellar hemorrhage: Usefulness of serial MRI. ( 26507178 )
2016
17
Dandy-Walker Malformation Presenting with Psychological Manifestations. ( 27493822 )
2016
18
Appearance of the fetal posterior fossa at 11-14 weeks in foetuses with Dandy-Walker complex or chromosomal anomalies. ( 25914043 )
2015
19
Treatment-resistant mania in Dandy-Walker malformation with seizure disorder: A case report. ( 26962361 )
2015
20
Perioperative management of a patient with Dandy Walker malformation with tetralogy of Fallot undergoing total correction and fresh homologous pericardial pulmonary valve conduit implantation: Report of a rare case. ( 26139758 )
2015
21
Diagnosis of a case of Dandy-Walker malformation aided by measurement of the brainstem-vermis angle at 14 weeks gestation. ( 25490874 )
2015
22
Unusual Ventriculoperitoneal (VP) Shunt Tube Extrusion through Anus in a Child with Dandy Walker Malformation: A Rare Case Report. ( 25738035 )
2015
23
Risk factors for Dandy-Walker malformation: a population-based assessment. ( 25941000 )
2015
24
Dandy-Walker Malformation: A Clinical and Surgical Outcome Analysis. ( 26100996 )
2015
25
Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families. ( 26109232 )
2015
26
Dandy-Walker Malformation: is the 'tail sign' the key sign? ( 26448595 )
2015
27
Neurocutaneous melanosis in association with dandy-walker complex with extensive intracerebral and spinal cord involvement. ( 25289129 )
2014
28
Joubert syndrome overlapping with Dandy-Walker malformation. ( 24783660 )
2014
29
Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities. ( 25510707 )
2014
30
Calvarial defects and Dandy-Walker malformation in association with neurofibromatosis type 1. ( 24622459 )
2014
31
Dandy-walker malformation and down syndrome association: good developmental outcome and successful endoscopic treatment of hydrocephalus. ( 24932176 )
2014
32
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. ( 23679990 )
2013
33
Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventriculomegaly, Dandy-Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: case report with literature review. ( 23055272 )
2013
34
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. ( 23674478 )
2013
35
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). ( 23756445 )
2013
36
A Newborn With Neurocutaneous Melanocytosis and Dandy-Walker Malformation. ( 24321541 )
2013
37
Dandy-Walker malformation and neurocutaneous melanosis in a three-month-old infant. ( 27493376 )
2013
38
Changes in a cerebellar peduncle lesion in a patient with Dandy-Walker malformation: A diffusion tensor imaging study. ( 25206690 )
2013
39
Endoscopic third ventriculostomy with/without choroid plexus cauterization for hydrocephalus due to hemorrhage, infection, Dandy-Walker malformation, and neural tube defect: a meta-analysis. ( 24374638 )
2013
40
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. ( 24039006 )
2013
41
Dandy-Walker Malformation, Papillary Thyroid Carcinoma, and SDHD-Associated Paraganglioma Syndrome. ( 24152682 )
2013
42
Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation. ( 23498571 )
2013
43
Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome. ( 23324646 )
2013
44
First-trimester sonographic findings associated with a Dandy-Walker malformation and inferior vermian hypoplasia. ( 24065268 )
2013
45
Psychosis and Dandy-Walker complex: report of four cases. ( 21983277 )
2012
46
Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling. ( 22418964 )
2012
47
Prenatal MR imaging of Dandy-Walker complex: midline sagittal area analysis. ( 21146946 )
2012
48
Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation. ( 22482980 )
2012
49
Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3. ( 22617776 )
2012
50
Neurocutaneous melanosis associated with Dandy-Walker complex and an intracranial cavernous angioma. ( 22134415 )
2012

Variations for Dandy-Walker Complex

Expression for Dandy-Walker Complex

Search GEO for disease gene expression data for Dandy-Walker Complex.

Pathways for Dandy-Walker Complex

GO Terms for Dandy-Walker Complex

Sources for Dandy-Walker Complex

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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