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 57
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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,...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
5 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
6 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 abnormality of the helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0011039
8 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
9 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
10 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
11 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
12 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
13 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
14 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
15 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
16 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
17 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
18 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
19 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
20 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
21 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
22 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
23 synophrys 59 32 hallmark (90%) Very frequent (99-80%) HP:0000664
24 dandy-walker malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001305
25 scrotal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000046
26 broad nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001821
27 hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001007
28 fundus atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001099
29 hydrocephalus 32 HP:0000238
30 cranial nerve paralysis 32 HP:0006824
31 truncal ataxia 32 HP:0002078
32 abnormality of the palate 59 Very frequent (99-80%)
33 short nail 32 HP:0001799
34 dilated fourth ventricle 32 HP:0002198
35 agenesis of cerebellar vermis 32 HP:0002335
36 elevated imprint of the transverse sinuses 32 HP:0000930
37 posterior fossa cyst at the fourth ventricle 32 HP:0000933
38 shortening of all distal phalanges of the fingers 32 HP:0006118
39 thinning and bulging of the posterior fossa bones 32 HP:0000931
40 partial absence of cerebellar vermis 32 HP:0002951
41 abnormal palate morphology 32 hallmark (90%) HP:0000174

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:

41
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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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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