Isolated Dandy-Walker malformation
General Information (adopted from Orphanet):
Synonyms, Signs: |
DWS DANDY-WALKER MALFORMATION, INCLUDED DWM, INCLUDED |
Number of Symptoms | 24 |
OrphanetNr: | 217 |
OMIM Id: |
220200
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ICD-10: |
Q03.1 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 2.1 of 100 000 [Orphanet] |
Inheritance: |
Multifactorial [Orphanet] |
Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Cystic malformation of the posterior fossa
-Rare developmental defect during embryogenesis -Rare neurologic disease Genetic cerebellar malformation -Rare genetic disease Malformation of the cerebellar vermis -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0000079) | Abnormality of the urinary system | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0000930) | Elevated imprint of the transverse sinuses | 3 / 7739 | ||||
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(HPO:0000269) | Prominent occiput | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000931) | Thinning and bulging of the posterior fossa bones | 3 / 7739 | ||||
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(HPO:0000933) | Posterior fossa cyst at the fourth ventricle | 3 / 7739 | ||||
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(HPO:0002691) | Platybasia | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0001305) | Dandy-Walker malformation | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0002084) | Encephalocele | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0002078) | Truncal ataxia | 41 / 7739 | ||||
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(HPO:0006824) | Cranial nerve paralysis | 81 / 7739 | ||||
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(HPO:0001626) | Abnormality of the cardiovascular system | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0001636) | Tetralogy of Fallot | Occasional [Orphanet] | 104 / 7739 | |||
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(HPO:0003220) | Abnormality of chromosome stability | Occasional [Orphanet] | 98 / 7739 | |||
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(OMIM) | Partial or complete absence of cerebellar vermis | 2 / 7739 | ||||
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(OMIM) | Bulging occiput | 2 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0002951) | Partial absence of cerebellar vermis | 3 / 7739 | ||||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0002335) | Agenesis of cerebellar vermis | 25 / 7739 | ||||
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(HPO:0002198) | Dilated fourth ventricle | 12 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental ... |
Clinical Description OMIM |
The primary defect was thought to be atresia of the foramina of Luschka and Magendie by Dandy and Blackfan (1914) and Taggart and Walker (1942). Benda (1954) introduced the designation Dandy-Walker syndrome. Furthermore he reported familial occurrence. He ... |