MCID: DND005
MIFTS: 37

Dandy-Walker Complex

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dandy-Walker Complex

MalaCards integrated aliases for Dandy-Walker Complex:

Name: Dandy-Walker Complex 54 26
Dandy-Walker Malformation 26 56
Dandy-Walker Syndrome 26 74
Hydrocephalus, Noncommunicating, Dandy-Walker Type 26
Hydrocephalus, Internal, Dandy-Walker Type 26
Dandy-Walker Syndrome or Malformation 54
Luschka-Magendie Foramina Atresia 26
Dandy-Walker Deformity 26
Syndrome, Dandy-Walker 41
Dandy-Walker Variant 54
Dandy Walker Variant 74
Mega Cisterna Magna 54
Mega-Cisterna Magna 60
Dandy-Walker Cyst 26
Dandy Walker Cyst 74
Dw Complex 54
Dws 26
Dwm 26

Classifications:



External Ids:

ICD10 via Orphanet 35 Q07.8
UMLS via Orphanet 75 C3164501
Orphanet 60 ORPHA97252

Summaries for Dandy-Walker Complex

NIH Rare Diseases : 54 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 cerebellar ataxia and ataxia, truncal. 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 : 26 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 274)
# Related Disease Score Top Affiliating Genes
1 dandy-walker syndrome 13.0
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 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.6
6 port-wine nevi-mega cisterna magna-hydrocephalus syndrome 12.6
7 pettigrew syndrome 12.6
8 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy 12.5
9 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 12.5
10 isolated dandy-walker malformation without hydrocephalus 12.5
11 isolated dandy-walker malformation with hydrocephalus 12.5
12 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.5
13 meckel syndrome, type 7 11.9
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 11.5
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 acromelic frontonasal dysostosis 11.4
26 hydrocephalus, congenital, 3, with brain anomalies 11.4
27 ritscher-schinzel syndrome 11.4
28 hydrocephalus-cleft palate-joint contractures syndrome 11.4
29 macrocephaly-short stature-paraplegia syndrome 11.4
30 syringohydromyelia 11.4
31 hydromyelia 11.4
32 cone-rod dystrophy and hearing loss 2 11.1
33 melanosis, neurocutaneous 10.5
34 cleft palate, isolated 10.5
35 tetrasomy 9p 10.5
36 meningocele 10.4
37 hereditary nodular heterotopia 10.4
38 down syndrome 10.4
39 holoprosencephaly 10.4
40 orofaciodigital syndrome 10.4
41 epicanthus 10.3
42 ellis-van creveld syndrome 10.3
43 meckel syndrome, type 1 10.3
44 ptosis 10.3
45 thrombosis 10.3
46 blepharophimosis 10.3
47 klippel-feil syndrome 10.3
48 leukodystrophy 10.3
49 teratoma 10.3
50 basal ganglia disease 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:


cerebellar ataxia, ataxia, truncal

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

27 (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 Brain Development Research Program Recruiting NCT00305305
3 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224

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:

42
Brain, Cerebellum, Spinal Cord, Heart, Kidney, Tongue, Thyroid

Publications for Dandy-Walker Complex

Articles related to Dandy-Walker Complex:

(show top 50) (show all 254)
# Title Authors Year
1
Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report. ( 30705709 )
2019
2
Dandy-Walker Malformation-Like Condition Revealed by Refractory Schizophrenia: A Case Report and Literature Review. ( 30448844 )
2019
3
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. ( 30534410 )
2019
4
Neurocognitive profile of a man with Dandy-Walker malformation: evidence of subtle cerebellar cognitive affective syndrome. ( 30821610 )
2019
5
Basilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy-Walker malformation. ( 31101983 )
2019
6
Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association. ( 30556660 )
2018
7
Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Patient with Dandy-Walker Malformation. ( 29890274 )
2018
8
Dandy-Walker malformation and syringomyelia: a rare association. ( 29532167 )
2018
9
Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V. ( 30567885 )
2018
10
Differential aspect of the posterior fossa at 12-13 weeks of gestation in Dandy-Walker malformation vs Blake's pouch cyst. ( 30575134 )
2018
11
A late presentation of Dandy-Walker malformation and aortic coarctation. ( 20019621 )
2017
12
Anatomic variants in Dandy-Walker complex. ( 29250689 )
2017
13
Syringomyelia caused by an arachnoid web in a patient with shunted Dandy-Walker malformation. ( 27822765 )
2017
14
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. ( 28761539 )
2017
15
Dandy-Walker Malformation: A Case Study of an Infant With an Increasing Head Circumference and Delayed Developmental Milestones. ( 28017487 )
2017
16
Dandy-Walker Malformation Presenting with Affective Symptoms. ( 29033643 )
2017
17
An Acquired Form of Dandy-Walker Malformation with Enveloping Hemosiderin Deposits. ( 29209547 )
2017
18
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
19
Dandy-Walker Malformation and Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episode Syndrome: Is There a Causal or Coincidental Association? ( 26905003 )
2016
20
Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome. ( 27506516 )
2016
21
Appearance of fetal posterior fossa at 11-14 weeks in fetuses with Dandy-Walker malformation or chromosomal anomalies. ( 25914043 )
2016
22
"Acquired" Dandy-Walker malformation and cerebellar hemorrhage: Usefulness of serial MRI. ( 26507178 )
2016
23
Dandy-Walker Malformation Presenting with Psychological Manifestations. ( 27493822 )
2016
24
Treatment-resistant mania in Dandy-Walker malformation with seizure disorder: A case report. ( 26962361 )
2015
25
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
26
Diagnosis of a case of Dandy-Walker malformation aided by measurement of the brainstem-vermis angle at 14 weeks gestation. ( 25490874 )
2015
27
Unusual Ventriculoperitoneal (VP) Shunt Tube Extrusion through Anus in a Child with Dandy Walker Malformation: A Rare Case Report. ( 25738035 )
2015
28
Risk factors for Dandy-Walker malformation: a population-based assessment. ( 25941000 )
2015
29
Dandy-Walker Malformation: A Clinical and Surgical Outcome Analysis. ( 26100996 )
2015
30
Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families. ( 26109232 )
2015
31
Dandy-Walker Malformation: is the 'tail sign' the key sign? ( 26448595 )
2015
32
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). ( 23756445 )
2014
33
Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities. ( 25510707 )
2014
34
Neurocutaneous melanosis in association with dandy-walker complex with extensive intracerebral and spinal cord involvement. ( 25289129 )
2014
35
Dandy-walker malformation and down syndrome association: good developmental outcome and successful endoscopic treatment of hydrocephalus. ( 24932176 )
2014
36
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 )
2014
37
Calvarial defects and Dandy-Walker malformation in association with neurofibromatosis type 1. ( 24622459 )
2014
38
Joubert syndrome overlapping with Dandy-Walker malformation. ( 24783660 )
2014
39
A newborn with neurocutaneous melanocytosis and Dandy-Walker malformation. ( 24321541 )
2014
40
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
41
Dandy-Walker malformation, papillary thyroid carcinoma, and SDHD-associated paraganglioma syndrome. ( 24152682 )
2013
42
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. ( 24039006 )
2013
43
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. ( 23679990 )
2013
44
Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation. ( 23498571 )
2013
45
Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome. ( 23324646 )
2013
46
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. ( 23674478 )
2013
47
First-trimester sonographic findings associated with a Dandy-Walker malformation and inferior vermian hypoplasia. ( 24065268 )
2013
48
Changes in a cerebellar peduncle lesion in a patient with Dandy-Walker malformation: A diffusion tensor imaging study. ( 25206690 )
2013
49
Dandy-Walker malformation and neurocutaneous melanosis in a three-month-old infant. ( 27493376 )
2013
50
Prenatal MR imaging of Dandy-Walker complex: midline sagittal area analysis. ( 21146946 )
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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