MCID: DND013
MIFTS: 22

Dandy-Walker Malformation with Postaxial Polydactyly

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dandy-Walker Malformation with Postaxial Polydactyly

MalaCards integrated aliases for Dandy-Walker Malformation with Postaxial Polydactyly:

Name: Dandy-Walker Malformation with Postaxial Polydactyly 56 52
Dwm with Postaxial Polydactyly 56 52 58
Pierquin Syndrome 56 52 58
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome 58
Dandy Walker Malformation Postaxial Polydactyly 71

Characteristics:

Orphanet epidemiological data:

58
dandy-walker malformation-postaxial polydactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
dandy-walker malformation with postaxial polydactyly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 220220
MESH via Orphanet 44 C535771
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1857351
Orphanet 58 ORPHA1566
MedGen 41 C1857351
UMLS 71 C1857351

Summaries for Dandy-Walker Malformation with Postaxial Polydactyly

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1566 Definition Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus . Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Visit the Orphanet disease page for more resources.

MalaCards based summary : Dandy-Walker Malformation with Postaxial Polydactyly, also known as dwm with postaxial polydactyly, is related to polydactyly, postaxial, type a1 and dandy-walker syndrome. Affiliated tissues include bone, kidney and tongue, and related phenotypes are dandy-walker malformation and postaxial hand polydactyly

More information from OMIM: 220220

Related Diseases for Dandy-Walker Malformation with Postaxial Polydactyly

Diseases related to Dandy-Walker Malformation with Postaxial Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly, postaxial, type a1 10.6
2 dandy-walker syndrome 10.6
3 polydactyly 10.6

Symptoms & Phenotypes for Dandy-Walker Malformation with Postaxial Polydactyly

Human phenotypes related to Dandy-Walker Malformation with Postaxial Polydactyly:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dandy-walker malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001305
2 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
3 macrocephaly 31 HP:0000256
4 low-set ears 31 HP:0000369
5 frontal bossing 31 HP:0002007
6 nystagmus 31 HP:0000639
7 hydrocephalus 31 HP:0000238
8 depressed nasal bridge 31 HP:0005280
9 wide nasal bridge 31 HP:0000431
10 cranial nerve paralysis 31 HP:0006824
11 dolichocephaly 31 HP:0000268
12 patent ductus arteriosus 31 HP:0001643
13 agenesis of cerebellar vermis 31 HP:0002335
14 posterior embryotoxon 31 HP:0000627
15 truncal ataxia 31 HP:0002078
16 microretrognathia 31 HP:0000308
17 aortic valve stenosis 31 HP:0001650
18 chorioretinal atrophy 31 HP:0000533
19 narrow palpebral fissure 31 HP:0045025
20 dilated fourth ventricle 31 HP:0002198
21 partial absence of cerebellar vermis 31 HP:0002951
22 dilatation 31 HP:0002617
23 elevated imprint of the transverse sinuses 31 HP:0000930
24 thinning and bulging of the posterior fossa bones 31 HP:0000931
25 posterior fossa cyst at the fourth ventricle 31 HP:0000933

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Mouth:
microretrognathia
fleshy tumors of the tongue (rare)

Skeletal Feet:
postaxial polydactyly

Genitourinary Kidneys:
discrete dilatation of the right kidney pelvis (rare)

Head And Neck Face:
frontal bossing

Head And Neck Head:
dolichocephaly
large head

Head And Neck Eyes:
posterior embryotoxon
chorioretinal atrophy
small palpebral fissures
pale optic nerves (rare)

Skeletal Hands:
postaxial polydactyly

Cardiovascular Heart:
aortic valve dysplasia, moderate
aortic stenosis, mild
aortic stenosis, severe (rare)

Neurologic Central Nervous System:
posterior fossa cyst continuous with the fourth ventricle
partial or complete absence of the cerebellar vermis consistent with dandy walker malformation
dilatation of the lateral and third ventricles

Clinical features from OMIM:

220220

Drugs & Therapeutics for Dandy-Walker Malformation with Postaxial Polydactyly

Search Clinical Trials , NIH Clinical Center for Dandy-Walker Malformation with Postaxial Polydactyly

Genetic Tests for Dandy-Walker Malformation with Postaxial Polydactyly

Anatomical Context for Dandy-Walker Malformation with Postaxial Polydactyly

MalaCards organs/tissues related to Dandy-Walker Malformation with Postaxial Polydactyly:

40
Bone, Kidney, Tongue

Publications for Dandy-Walker Malformation with Postaxial Polydactyly

Articles related to Dandy-Walker Malformation with Postaxial Polydactyly:

# Title Authors PMID Year
1
Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome. 61 56
23324646 2013
2
Dandy-Walker malformation with postaxial polydactyly: further evidence for autosomal recessive inheritance. 61 56
10406674 1999
3
Dandy-Walker malformation with postaxial polydactyly: a new syndrome? 61 56
2596509 1989
4
Joubert-Boltshauser syndrome with polydactyly in siblings. 56
7131000 1982

Variations for Dandy-Walker Malformation with Postaxial Polydactyly

Expression for Dandy-Walker Malformation with Postaxial Polydactyly

Search GEO for disease gene expression data for Dandy-Walker Malformation with Postaxial Polydactyly.

Pathways for Dandy-Walker Malformation with Postaxial Polydactyly

GO Terms for Dandy-Walker Malformation with Postaxial Polydactyly

Sources for Dandy-Walker Malformation with Postaxial Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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