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MCID: MRD002
MIFTS: 46

Marden-Walker Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Marden-Walker Syndrome

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MalaCards integrated aliases for Marden-Walker Syndrome:

Name: Marden-Walker Syndrome 57 53 59 75 29 6 73
Mws 57 53 75
Mwks 57 75
Connective Tissue Disorder Marden Walker Type 53
Syndrome, Marden Walker 40
Arachnodactyly 44

Characteristics:

Orphanet epidemiological data:

59
marden-walker syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/100000 (Belgium); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one patient reported with de novo piezo2 mutation (last curated january 2015)


HPO:

32
marden-walker syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Marden-Walker Syndrome

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NIH Rare Diseases : 53 Marden-Walker syndrome (MWS) is a connective tissue disorder characterized by distinctive facial features, a cleft or high-arched palate, a small or receding jaw (micrognathia), fixed bone joints (contractures or arthrogryposis), and growth delay. Symptoms may include a mask-like face with a narrowing of the eye opening (blepharophimosis), low-set ears, failure to thrive and a generalized slowing down of physical reactions, movements, and speech. While the underlying cause of MWS has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner. Mutations in the PIEZO2 gene have been identified in a few individuals with MWS. Although there is no specific treatment or cure for MWS, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Marden-Walker Syndrome, also known as mws, is related to marfan syndrome and distal arthrogryposis, and has symptoms including seizures An important gene associated with Marden-Walker Syndrome is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include kidney, bone and eye, and related phenotypes are low-set ears and pectus excavatum

UniProtKB/Swiss-Prot : 75 Marden-Walker syndrome: A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation.

Wikipedia : 76 Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder. It is characterized by... more...

Description from OMIM: 248700
Sources

Related Diseases for Marden-Walker Syndrome

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Diseases in the Marden-Walker Syndrome family:

Marden Walker Like Syndrome

Diseases related to Marden-Walker Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 31.7 FBN1 FBN2
2 distal arthrogryposis 29.9 FBN2 PIEZO2
3 aortic aneurysm 28.6 FBN1 FBN2
4 scoliosis 28.3 FBN1 FBN2
5 arthrogryposis, distal, type 9 12.2
6 muckle-wells syndrome 12.0
7 arachnodactyly - intellectual disability - dysmorphism 12.0
8 scoliosis, arachnodactyly, and blindness 11.9
9 arachnodactyly-abnormal ossification-intellectual disability syndrome 11.9
10 mowat-wilson syndrome 11.9
11 van den ende-gupta syndrome 11.7
12 arthrogryposis, distal, type 3 11.6
13 shprintzen-goldberg craniosynostosis syndrome 11.5
14 achard syndrome 11.5
15 kosztolanyi syndrome 11.4
16 marden walker like syndrome 11.4
17 cryopyrin-associated periodic syndrome 11.2
18 arthrogryposis, distal, type 5 11.2
19 van benthem-driessen-hanveld syndrome 11.1
20 haim-munk syndrome 11.1
21 al-gazali syndrome 11.0
22 galloway-mowat syndrome 2, x-linked 10.9
23 cutis laxa, autosomal recessive, type ib 10.9
24 marfan lipodystrophy syndrome 10.9
25 galloway-mowat syndrome 3 10.9
26 galloway-mowat syndrome 4 10.9
27 galloway-mowat syndrome 5 10.9
28 autosomal recessive cutis laxa type i 10.9
29 jaffer beighton syndrome 10.8
30 vagneur triolle ripert syndrome 10.8
31 marfanoid hypermobility syndrome 10.8
32 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.8
33 arterial tortuosity syndrome 10.8
34 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.8
35 galloway-mowat syndrome 1 10.8
36 multiple pterygium syndrome, escobar variant 10.8
37 bazex syndrome 10.8
38 glass syndrome 10.8
39 loeys-dietz syndrome 4 10.8
40 epiphyseal chondrodysplasia, miura type 10.8
41 antley-bixler syndrome 10.8
42 harrod doman keele syndrome 10.8
43 marfanoid habitus-autosomal recessive intellectual disability syndrome 10.8
44 congenital contractures 10.7
45 myopathy, congenital 10.1
46 ehlers-danlos syndrome, musculocontractural type, 1 10.1
47 zollinger-ellison syndrome 10.1
48 clubfoot 10.1
49 pyloric stenosis 10.1
50 ehlers-danlos syndrome 10.1

Graphical network of the top 20 diseases related to Marden-Walker Syndrome:



Diseases related to Marden-Walker Syndrome
Sources

Symptoms & Phenotypes for Marden-Walker Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
microphthalmia
blepharophimosis
more
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly
large anterior fontanel

Head And Neck Mouth:
cleft palate
small mouth
high arched palate

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Feet:
talipes equinovarus

Skeletal Limbs:
radioulnar synostosis
congenital joint contractures

Growth Other:
prenatal growth deficiency
postnatal growth deficiency

Respiratory Lung:
hypoplastic lung

Genitourinary Kidneys:
microcystic kidney
hypoplastic kidney

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
agenesis of corpus callosum
seizures
cerebellar hypoplasia
dandy-walker malformation
inferior vermis hypoplasia
more
Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
micropenis

Muscle Soft Tissue:
decreased muscle mass

Head And Neck Face:
long philtrum
micrognathia
fixed facial expression

Skeletal Hands:
arachnodactyly
camptodactyly

Abdomen Gastrointestinal:
zollinger-ellison syndrome
pyloric stenosis
duodenal bands
patent omphalomesenteric duct

Cardiovascular Heart:
dextrocardia

Head And Neck Nose:
upturned nose tip

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum or pectus excavatum
absent clavicle


Clinical features from OMIM:

248700

Human phenotypes related to Marden-Walker Syndrome:

59 32 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
3 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
9 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
10 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
13 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
14 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
15 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
16 cleft palate 59 32 Very frequent (99-80%) HP:0000175
17 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
18 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
19 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
20 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
21 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
22 metatarsus adductus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001840
23 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
24 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
25 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
26 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
27 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
28 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
29 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
30 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
31 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
32 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
33 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
34 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
35 radioulnar synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002974
36 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
37 absent septum pellucidum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001331
38 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
39 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
40 hydroureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000072
41 situs inversus totalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001696
42 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
43 epispadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000039
44 dextrocardia 59 32 Occasional (29-5%) HP:0001651
45 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
46 bifid uvula 59 32 hallmark (90%) Very frequent (99-80%) HP:0000193
47 submucous cleft hard palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000176
48 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
49 short palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0012745
50 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358

UMLS symptoms related to Marden-Walker Syndrome:


seizures
Sources

Drugs & Therapeutics for Marden-Walker Syndrome

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Search Clinical Trials , NIH Clinical Center for Marden-Walker Syndrome

Cochrane evidence based reviews: arachnodactyly

Sources

Genetic Tests for Marden-Walker Syndrome

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Genetic tests related to Marden-Walker Syndrome:

# Genetic test Affiliating Genes
1 Marden-Walker Syndrome 29 PIEZO2
Sources

Anatomical Context for Marden-Walker Syndrome

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MalaCards organs/tissues related to Marden-Walker Syndrome:

41
Kidney, Bone, Eye, Lung, Heart, Skeletal Muscle, Brain
Sources

Publications for Marden-Walker Syndrome

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Articles related to Marden-Walker Syndrome:

(show all 30)
# Title Authors Year
1
Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature. ( 24649842 )
2014
2
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. ( 24726473 )
2014
3
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome. ( 23894067 )
2013
4
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. ( 22987394 )
2012
5
Unusual manifestation of Marden-Walker syndrome. ( 23162309 )
2012
6
Novel findings in the Marden-Walker syndrome. ( 21496524 )
2011
7
Marden-Walker syndrome with some additional anomalies. ( 15693875 )
2005
8
Caecal volvulus in the Marden-Walker syndrome: an uncommon association of two rare diseases in a 4-year old child. Case report. ( 15053474 )
2004
9
Marden Walker Syndrome. ( 12368539 )
2002
10
Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient. ( 11292226 )
2001
11
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. ( 10893662 )
2000
12
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. ( 9727748 )
1998
13
Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis. ( 7677143 )
1995
14
Marden-Walker syndrome in an adult. ( 7551165 )
1995
15
A case of Marden-Walker syndrome with Dandy-Walker malformation. ( 7543036 )
1995
16
Marden-Walker syndrome in two siblings. ( 7690581 )
1993
17
Marden-Walker syndrome: case report, literature review and nosologic discussion. ( 8370150 )
1993
18
Marden-Walker syndrome: a case report and a critical review of the literature. ( 7506965 )
1993
19
Early neurological manifestations and brain anomalies in Marden-Walker syndrome. ( 1519648 )
1992
20
Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome). ( 1877612 )
1991
21
Expanded spectrum of findings in Marden-Walker syndrome. ( 2202217 )
1990
22
A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. ( 3591834 )
1987
23
The Marden-Walker syndrome: a case report and review of the literature. ( 4009704 )
1985
24
Brief clinical report and review: the Marden-Walker syndrome. ( 7081292 )
1982
25
Two brothers with the Marden-Walker syndrome: case report and review. ( 7252998 )
1981
26
Another case of Marden-Walker syndrome. ( 6977290 )
1981
27
Zollinger-Ellison syndrome with Marden-Walker syndrome. Association of two rare diseases in a 5-year-old girl. ( 463823 )
1979
28
The Marden-Walker syndrome. ( 739527 )
1978
29
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. ( 1227520 )
1975
30
Marden-Walker syndrome. ( 1227572 )
1975
Sources

Variations for Marden-Walker Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Marden-Walker Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 PIEZO2 p.Arg2686Cys VAR_071302 rs587777451

ClinVar genetic disease variations for Marden-Walker Syndrome:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs137854467 GRCh37 Chromosome 15, 48892414: 48892414
2 FBN1 NM_000138.4(FBN1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs137854467 GRCh38 Chromosome 15, 48600217: 48600217
3 FBN1 NM_000138.4(FBN1): c.5788+5G> A single nucleotide variant Pathogenic rs193922219 GRCh37 Chromosome 15, 48738898: 48738898
4 FBN1 NM_000138.4(FBN1): c.5788+5G> A single nucleotide variant Pathogenic rs193922219 GRCh38 Chromosome 15, 48446701: 48446701
5 PIEZO2 NM_022068.3(PIEZO2): c.8056C> T (p.Arg2686Cys) single nucleotide variant Pathogenic rs587777451 GRCh38 Chromosome 18, 10671730: 10671730
6 PIEZO2 NM_022068.3(PIEZO2): c.8056C> T (p.Arg2686Cys) single nucleotide variant Pathogenic rs587777451 GRCh37 Chromosome 18, 10671727: 10671727
7 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh38 Chromosome 15, 48644631: 48644631
8 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh37 Chromosome 15, 48936828: 48936828
9 46;XX;t(17;22)(q23;q12.2)dn Translocation Uncertain significance
10 46;XY;t(1;4)(q32;q11) Translocation Uncertain significance
11 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh37 Chromosome X, 152037592: 152037592
12 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh38 Chromosome X, 152869048: 152869048
13 KAT6B NM_012330.3(KAT6B): c.3154_3169del16 (p.Arg1052Serfs) deletion Uncertain significance rs1057519003 GRCh37 Chromosome 10, 76781771: 76781786
14 KAT6B NM_012330.3(KAT6B): c.3154_3169del16 (p.Arg1052Serfs) deletion Uncertain significance rs1057519003 GRCh38 Chromosome 10, 75022013: 75022028
Sources

Expression for Marden-Walker Syndrome

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Search GEO for disease gene expression data for Marden-Walker Syndrome.
Sources

Pathways for Marden-Walker Syndrome

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Pathways related to Marden-Walker Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 66
Show member pathways
 11.81 FBN1 FBN2
2
Elastic fibre formation 66
Show member pathways
 10.82 FBN1 FBN2
3
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.02 FBN1 FBN2
Sources

GO Terms for Marden-Walker Syndrome

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Cellular components related to Marden-Walker Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.96 FBN1 FBN2
2 microfibril GO:0001527 8.62 FBN1 FBN2

Biological processes related to Marden-Walker Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.4 FBN1 FBN2
2 anatomical structure morphogenesis GO:0009653 9.37 FBN1 FBN2
3 extracellular matrix disassembly GO:0022617 9.32 FBN1 FBN2
4 camera-type eye development GO:0043010 9.26 FBN1 FBN2
5 embryonic eye morphogenesis GO:0048048 9.16 FBN1 FBN2
6 regulation of cellular response to growth factor stimulus GO:0090287 8.96 FBN1 FBN2
7 sequestering of TGFbeta in extracellular matrix GO:0035583 8.62 FBN1 FBN2

Molecular functions related to Marden-Walker Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 FBN1 FBN2
2 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN1 FBN2
Sources

Sources for Marden-Walker Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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