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
ICD-10: Q03.1
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
(HPO:0000930) Elevated imprint of the transverse sinuses 3 / 7739
3
(HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
4
(HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
5
(HPO:0000931) Thinning and bulging of the posterior fossa bones 3 / 7739
6
(HPO:0000933) Posterior fossa cyst at the fourth ventricle 3 / 7739
7
(HPO:0002691) Platybasia Very frequent [Orphanet] 10 / 7739
8
(HPO:0001305) Dandy-Walker malformation Very frequent [Orphanet] 79 / 7739
9
(HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
10
(HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
11
(HPO:0000639) Nystagmus 555 / 7739
12
(HPO:0002078) Truncal ataxia 41 / 7739
13
(HPO:0006824) Cranial nerve paralysis 81 / 7739
14
(HPO:0001626) Abnormality of the cardiovascular system Occasional [Orphanet] 73 / 7739
15
(HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
16
(HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
17
(OMIM) Partial or complete absence of cerebellar vermis 2 / 7739
18
(OMIM) Bulging occiput 2 / 7739
19
(HPO:0001425) Heterogeneous 132 / 7739
20
(HPO:0000238) Hydrocephalus 278 / 7739
21
(HPO:0002951) Partial absence of cerebellar vermis 3 / 7739
22
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
23
(HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
24
(HPO:0002198) Dilated fourth ventricle 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...