MCID: DND020
MIFTS: 17

Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

MalaCards integrated aliases for Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy:

Name: Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 58
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

MalaCards based summary : Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy, is also known as facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome. Affiliated tissues include bone, and related phenotypes are macrocephaly and nystagmus

Description from OMIM: 220219

Related Diseases for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

Symptoms & Phenotypes for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

Human phenotypes related to Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
3 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
4 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
5 abnormality of the helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0011039
6 abnormality of the dentition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000164
7 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
8 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
9 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
10 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
11 hemiplegia/hemiparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004374
12 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
13 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
14 intellectual disability, progressive 60 33 hallmark (90%) Very frequent (99-80%) HP:0006887
15 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
16 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
17 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
18 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
19 synophrys 60 33 hallmark (90%) Very frequent (99-80%) HP:0000664
20 dandy-walker malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001305
21 broad nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001821
22 hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001007
23 fundus atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001099
24 abnormal palate morphology 33 hallmark (90%) HP:0000174
25 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
26 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
27 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
28 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
29 scrotal hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000046
30 hydrocephalus 33 HP:0000238
31 cranial nerve paralysis 33 HP:0006824
32 truncal ataxia 33 HP:0002078
33 abnormality of the palate 60 Very frequent (99-80%)
34 short nail 33 HP:0001799
35 dilated fourth ventricle 33 HP:0002198
36 agenesis of cerebellar vermis 33 HP:0002335
37 partial absence of cerebellar vermis 33 HP:0002951
38 elevated imprint of the transverse sinuses 33 HP:0000930
39 posterior fossa cyst at the fourth ventricle 33 HP:0000933
40 shortening of all distal phalanges of the fingers 33 HP:0006118
41 thinning and bulging of the posterior fossa bones 33 HP:0000931

Symptoms via clinical synopsis from OMIM:

58
Neuro:
macrocephaly
hydrocephalus
nystagmus
truncal ataxia
dilated fourth ventricle
more
Radiology:
thinning and bulging of posterior fossa bones
elevated imprint of the transverse sinuses
partial or complete absence of cerebellar vermis
posterior fossa cyst at the fourth ventricle

Nails:
short and broad fingernails

Skel:
brachytelephalangy

Eyes:
extreme myopia

Clinical features from OMIM:

220219

Drugs & Therapeutics for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

Search Clinical Trials , NIH Clinical Center for Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy

Genetic Tests for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

Anatomical Context for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

MalaCards organs/tissues related to Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy:

42
Bone

Publications for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

Variations for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

Expression for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

Search GEO for disease gene expression data for Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy.

Pathways for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

GO Terms for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

Sources for Dandy-Walker Malformation with Mental Retardation, Macrocephaly,...

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