DWM
MCID: DND005
MIFTS: 34

Dandy-Walker Complex (DWM)

Categories: Fetal diseases, Mental 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 72
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
Dandy-Walker Variant 53
Dandy Walker Variant 72
Mega Cisterna Magna 53
Mega-Cisterna Magna 59
Dandy-Walker Cyst 25
Dandy Walker Cyst 72
Dw Complex 53
Dws 25
Dwm 25

Classifications:



External Ids:

ICD10 via Orphanet 34 Q07.8
UMLS via Orphanet 73 C3164501
Orphanet 59 ORPHA97252
UMLS 72 C0010964 C2931015 C2931867

Summaries for Dandy-Walker Complex

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. In the majority of individuals with Dandy-Walker malformation, signs and symptoms caused by abnormal brain development are present at birth or develop within the first year of life. Some children have a buildup of fluid in the brain (hydrocephalus) that may cause increased head size (macrocephaly). Up to half of affected individuals have intellectual disability that ranges from mild to severe, and those with normal intelligence may have learning disabilities. Children with Dandy-Walker malformation often have delayed development, particularly a delay in motor skills such as crawling, walking, and coordinating movements. People with Dandy-Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. While rare, hearing and vision problems can be features of this condition. Less commonly, other brain abnormalities have been reported in people with Dandy-Walker malformation. These abnormalities include an underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), a sac-like protrusion of the brain through an opening at the back of the skull (occipital encephalocele), or a failure of some nerve cells (neurons) to migrate to their proper location in the brain during development. These additional brain malformations are associated with more severe signs and symptoms. Dandy-Walker malformation typically affects only the brain, but problems in other systems can include heart defects, malformations of the urogenital tract, extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly), or abnormal facial features. In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms of the condition do not appear until late childhood or into adulthood. These individuals typically have a different range of features than those affected in infancy, including headaches, an unsteady walking gait, paralysis of facial muscles (facial palsy), increased muscle tone, muscle spasms, and mental and behavioral changes. Rarely, people with Dandy-Walker malformation have no health problems related to the condition. Problems related to hydrocephalus or complications of its treatment are the most common cause of death in people with Dandy-Walker malformation.

MalaCards based summary : Dandy-Walker Complex, 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 and ataxia, truncal. An important gene associated with Dandy-Walker Complex is NES (Nestin). The drugs Kava and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord.

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.

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 486)
# Related Disease Score Top Affiliating Genes
1 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 13.0
2 dandy-walker malformation with postaxial polydactyly 13.0
3 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 13.0
4 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.8
5 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy 12.8
6 port-wine nevi-mega cisterna magna-hydrocephalus syndrome 12.7
7 genetic syndrome with a dandy-walker malformation as major feature 12.6
8 syndrome with a dandy-walker malformation as major feature 12.6
9 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 12.6
10 isolated dandy-walker malformation without hydrocephalus 12.6
11 isolated dandy-walker malformation with hydrocephalus 12.6
12 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.6
13 meckel syndrome, type 7 12.0
14 marden-walker syndrome 12.0
15 corpus callosum, agenesis of 11.9
16 hydrocephalus, autosomal dominant 11.9
17 acrocallosal syndrome 11.7
18 heart and brain malformation syndrome 11.7
19 ritscher-schinzel syndrome 1 11.5
20 oculocerebral syndrome with hypopigmentation 11.5
21 anemia, sideroblastic, and spinocerebellar ataxia 11.5
22 otopalatodigital syndrome, type ii 11.5
23 acromelic frontonasal dysostosis 11.5
24 hydrocephalus, congenital, 3, with brain anomalies 11.5
25 brain abnormalities, neurodegeneration, and dysosteosclerosis 11.5
26 ritscher-schinzel syndrome 11.5
27 hydrocephalus-cleft palate-joint contractures syndrome 11.5
28 macrocephaly-short stature-paraplegia syndrome 11.5
29 mosaic variegated aneuploidy syndrome 11.5
30 hydromyelia 11.5
31 syringohydromyelia 11.5
32 meckel syndrome, type 1 10.6
33 meningocele 10.6
34 hydrocephalus 10.6
35 congenital hydrocephalus 10.6
36 cerebral malformation 10.6
37 microcephaly 10.6
38 melanosis, neurocutaneous 10.5
39 chromosomal triplication 10.5
40 hypertelorism 10.5
41 epicanthus 10.5
42 blepharophimosis 10.5
43 chromosome 9p duplication 10.5
44 tetrasomy 9p 10.5
45 dwarfism 10.5
46 occipital encephalocele 10.4
47 blepharophimosis, ptosis, and epicanthus inversus 10.4
48 ichthyosis 10.4
49 orofaciodigital syndrome 10.4
50 rhombencephalosynapsis 10.4

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

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 Kava Approved, Investigational, Nutraceutical 9000-38-8
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
2 Influence of Imaging Angle in Measurement of Cisterna Magna in the Second Trimester Recruiting NCT03697902
3 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305
4 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:

41
Brain, Cerebellum, Spinal Cord, Heart, Liver, Fetal Brain, Eye

Publications for Dandy-Walker Complex

Articles related to Dandy-Walker Complex:

(show top 50) (show all 413)
# Title Authors PMID Year
1
The fetal dandy walker complex: associated anomalies, perinatal outcome and postnatal imaging. 38 6
17369695 2007
2
Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome. 38
31288482 2019
3
[Prenatal diagnosis of a fetus with trisomies of 11q23.3q25 and 22q11.1q11.21]. 38
31055824 2019
4
Nivolumab-induced type 1 diabetes mellitus as an immune-related adverse event. 38
30955467 2019
5
Lessons Learned From a Burn-Injured Pediatric Patient With Dandy-Walker Syndrome After Multiple Anesthetics: A Case Report. 38
30985318 2019
6
Dandy-Walker syndrome associated with syringomyelia in an adult: a case report and literature review. 38
30799663 2019
7
Ligneous conjunctivitis in a Dandy-Walker syndrome: A rare case report. 38
30574926 2019
8
Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature. 38
30205217 2018
9
Ablative stereotactic neurosurgery for irreducible neuroaggressive disorder in pediatric patients. 38
29914842 2018
10
Mosaicism trisomy 10 in a 14-month-old child with additional neurological abnormalities: case report and literature review. 38
30081864 2018
11
Paediatric Salzmann's nodular degeneration in Dandy-Walker syndrome variant. 38
29165863 2018
12
Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. 38
29489735 2018
13
[Dandy-Walker syndrome in an independent for basic activities of daily living woman of 85 years old]. 38
28320547 2018
14
The outcome of cochlear implantation among children with genetic syndromes. 38
29204917 2018
15
Transtentorial Distortion Syndrome: Consistent Complication Following Lateral and Fourth Ventricular Shunting in Adults. 38
29155115 2018
16
Neu-Laxova Syndrome: An Unusual Association with Kyphosis. 38
28272663 2018
17
Dandy-Walker Syndrome with Giant Cell Lesions and Cherubism. 38
29963440 2018
18
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. 38
29171184 2018
19
Scoliosis in Dandy-Walker syndrome: a case report and review of literature. 38
29354751 2017
20
Case 6: Ascites in a 20-year-old Man with Dandy-Walker Syndrome, Hydrocephalus, and Ventriculoperitoneal Shunt. 38
28972056 2017
21
Dandy Walker Syndrome: A Rare Presentation in Adult. 38
29319270 2017
22
Dandy-Walker syndrome with duplex kidney abnormalities in trisomy 18 - A rare case report. 38
29037562 2017
23
[Genetic analysis of two cases with Dandy-Walker deformed fetus]. 38
28981929 2017
24
The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports. 38
28635420 2017
25
Foveal hypoplasia associated with Dandy-Walker syndrome. 38
28774532 2017
26
Scoliosis correction in an adolescent patient with Dandy-Walker syndrome: A case report. 38
28757843 2017
27
Psychosis in a Case of Dandy-Walker Syndrome: A Case Report. 38
28658885 2017
28
Dandy-Walker Variant with Schizophrenia: Comorbidity or Cerebellar Cognitive Affective Syndrome? 38
28515557 2017
29
Bilateral Macular Edema: A New Ocular Feature of Dandy-Walker Syndrome. 38
27077329 2017
30
X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report. 38
29177011 2017
31
Joubert Plus Syndrome with Self-Mutilation: A Case report. 38
28052210 2017
32
Anatomic variants in Dandy-Walker complex. 38
29250689 2017
33
A rare case of giant occipital meningocele with Dandy Walker Syndrome: Can it grow bigger than this? 38
28217162 2016
34
Dandy Walker Syndrome: A Rare Presentation in Adult. 38
27766825 2016
35
[Dandy-Walker variant: Case report]. 38
26976079 2016
36
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome. 38
27106665 2016
37
[Intravenous Sedation and Repeated "the Same Day General Anesthesia" for a School-age Boy with Dandy-Walker Syndrome and Dentinogenesis]. 38
27097514 2016
38
Endoscopic third ventriculostomy and choroid plexus cauterization with a rigid neuroendoscope in infants with hydrocephalus. 38
26517057 2016
39
Neuropsychological Function in a Case of Dandy-Walker Variant in a 68-Year-Old Veteran. 38
25997155 2016
40
PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome. 38
26053730 2016
41
Dandy Walker syndrome with giant occipital meningocele with craniovertebral anomalies: Challenges faced during anaesthesia. 38
26962265 2016
42
Ophthalmic profile and systemic features of pediatric facial nerve palsy. 38
27215002 2015
43
Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34. 38
25454392 2015
44
Abnormal sonographic appearance of posterior brain at 11-14 weeks and fetal outcome. 38
25828703 2015
45
Bipolar Disorder in a Young Girl with Dandy-Walker Syndrome. 38
26877755 2015
46
Mortality of Dandy-Walker syndrome in the United States: Analysis by race, gender, and insurance status. 38
25883477 2015
47
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. 38
25896430 2015
48
Prevalence of selected congenital anomalies in Saudi children: a community-based study. 38
26336015 2015
49
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. 38
25861538 2015
50
Rapid resolution of an acute subdural hematoma in Dandy Walker syndrome. 38
25948011 2015

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
19 FMA
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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