Marden-Walker syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MWS
Number of Symptoms 115
OrphanetNr: 2461
OMIM Id: 248700
ICD-10: Q87.0
UMLs: C0796033
MeSH: C535910
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal recessive
15693875; 7081292 [IBIS]
Age of onset: Neonatal
Infancy
24649842 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Arthrogryposis multiplex congenita
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Comment:

Mutations in PIEZO2 (= DA3; DA5; MWKS; DAIPT; FAM38B; HsT748; HsT771; FAM38B2; C18orf30; C18orf58) cause Gordon syndrome (GS), Marden-Walker syndrome (MWS), and distal arthrogryposis type 5 (DA5) (PMID:24726473). MWS is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis (PMID:23162309).

Symptom Information: Sort by abundance 

1
 (HPO:0001508) Failure to thrive 23162309 IBIS 454 / 7739
2
 (HPO:0000119) Abnormality of the genitourinary system 23162309 IBIS 34 / 7739
3
 (HPO:0000718) Aggressive behavior 7551165 IBIS 109 / 7739
4
 (HPO:0000711) Restlessness 7551165 IBIS 18 / 7739
5
 (HPO:0000316) Hypertelorism 24649842 IBIS 644 / 7739
6
 (HPO:0000486) Strabismus Frequent [IBIS] 69% (n=13) 7506965 IBIS 576 / 7739
7
 (HPO:0000508) Ptosis Frequent [IBIS] Very frequent [Orphanet] 73% (n=11) 7506965 IBIS 459 / 7739
8
 (HPO:0002089) Pulmonary hypoplasia 2202217 IBIS 80 / 7739
9
 (HPO:0001600) Abnormality of the larynx 2202217 IBIS 15 / 7739
10
 (HPO:0004322) Short stature Very frequent [Orphanet] 15693875 IBIS 1232 / 7739
11
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 24649842 IBIS 492 / 7739
12
 (HPO:0003074) Hyperglycemia 24649842 IBIS 37 / 7739
13
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 23162309 IBIS 38 / 7739
14
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 23162309 IBIS 316 / 7739
15
 (HPO:0001305) Dandy-Walker malformation 24726473 IBIS 79 / 7739
16
 (HPO:0006956) Dilation of lateral ventricles 24649842 IBIS 13 / 7739
17
 (HPO:0003115) Abnormal EKG 7506965 IBIS 44 / 7739
18
 (HPO:0001903) Anemia 24649842 IBIS 289 / 7739
19
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 24649842 IBIS 281 / 7739
20
 (HPO:0009004) Hypoplasia of the musculature 24649842 IBIS 7 / 7739
21
 (HPO:0003199) Decreased muscle mass 23162309 IBIS 27 / 7739
22
 (HPO:0003808) Abnormal muscle tone Frequent [IBIS] 82% (n=11) 7506965 IBIS 3 / 7739
23
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 24649842 IBIS 990 / 7739
24
 (HPO:0008947) Infantile muscular hypotonia 24649842 IBIS 482 / 7739
25
 (HPO:0003457) EMG abnormality Frequent [IBIS] 33% (n=6) 7506965 IBIS 78 / 7739
26
 (HPO:0001324) Muscle weakness 7081292 IBIS 859 / 7739
27
 (HPO:0002186) Apraxia 24649842 IBIS 22 / 7739
28
 (HPO:0010526) Dysgraphia 24649842 IBIS 3 / 7739
29
 (HPO:0001263) Global developmental delay 24726473 IBIS 853 / 7739
30
 (HPO:0001249) Intellectual disability 24649842 IBIS 1089 / 7739
31
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 7551165 IBIS 140 / 7739
32
 (HPO:0001315) Reduced tendon reflexes Frequent [IBIS] 89% (n=9) 7506965 IBIS 160 / 7739
33
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 24649842 IBIS 358 / 7739
34
 (HPO:0002857) Genu valgum 24649842 IBIS 144 / 7739
35
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 24649842 IBIS 212 / 7739
36
 (HPO:0001166) Arachnodactyly Frequent [IBIS] 67% (n=12) 7506965 IBIS 62 / 7739
37
 (HPO:0001762) Talipes equinovarus Frequent [IBIS] Occasional [Orphanet] 47% (n=15) 7506965 IBIS 309 / 7739
38
 (HPO:0002827) Hip dislocation 24649842 IBIS 94 / 7739
39
 (HPO:0001385) Hip dysplasia 24649842 IBIS 242 / 7739
40
 (HPO:0006380) Knee flexion contracture 24649842 IBIS 56 / 7739
41
 (HPO:0003066) Limited knee extension 24649842 IBIS 4 / 7739
42
 (HPO:0006184) Decreased palmar creases 24649842 IBIS 5 / 7739
43
 (HPO:0000954) Single transverse palmar crease Frequent [IBIS] 77% (n=13) 7506965 IBIS 162 / 7739
44
 (HPO:0006659) Internally rotated shoulders 24649842 IBIS 2 / 7739
45
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 7506965 IBIS 394 / 7739
46
 (HPO:0000347) Micrognathia Very frequent [IBIS] 94% (n=16) 7506965 IBIS 426 / 7739
47
 (HPO:0030799) Scaphocephaly 24649842 IBIS 2 / 7739
48
 (HPO:0000337) Broad forehead 24649842 IBIS 116 / 7739
49
 (HPO:0000252) Microcephaly Frequent [IBIS] Very frequent [Orphanet] 69% (n=16) 7506965 IBIS 832 / 7739
50
 (HPO:0000260) Wide anterior fontanel Frequent [IBIS] 80% (n=5) 7506965 IBIS 55 / 7739
51
 (HPO:0000883) Thin ribs 24649842 IBIS 31 / 7739
52
 (HPO:0000766) Abnormality of the sternum Frequent [IBIS] 23162309 IBIS 31 / 7739
53
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 23162309 IBIS 136 / 7739
54
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 7081292 IBIS 244 / 7739
55
 (HPO:0005257) Thoracic hypoplasia 24649842 IBIS 79 / 7739
56
 (HPO:0000470) Short neck 24649842 IBIS 345 / 7739
57
 (HPO:0002808) Kyphosis Frequent [Orphanet] 24649842 IBIS 289 / 7739
58
 (HPO:0002751) Kyphoscoliosis Frequent [IBIS] 73% (n=11) 7506965 IBIS 131 / 7739
59
 (HPO:0002650) Scoliosis Frequent [Orphanet] 24726473 IBIS 705 / 7739
60
 (HPO:0001274) Agenesis of corpus callosum 24649842 IBIS 142 / 7739
61
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 23162309 IBIS 180 / 7739
62
 (HPO:0001376) Limitation of joint mobility 24649842 IBIS 27 / 7739
63
 (HPO:0000574) Thick eyebrow 24649842 IBIS 96 / 7739
64
 (HPO:0000527) Long eyelashes 24649842 IBIS 46 / 7739
65
 (HPO:0009553) Abnormality of the hairline 24649842 IBIS 30 / 7739
66
 (HPO:0009890) High anterior hairline 24649842 IBIS 10 / 7739
67
 (HPO:0002580) Volvulus 15053474 IBIS 10 / 7739
68
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 3591834 IBIS 51 / 7739
69
 (HPO:0002044) Zollinger-Ellison syndrome 463823 IBIS 2 / 7739
70
 (HPO:0000023) Inguinal hernia 23162309 IBIS 181 / 7739
71
 (HPO:0000041) Chordee 7506965 IBIS 11 / 7739
72
 (HPO:0000047) Hypospadias Occasional [Orphanet] 23162309 IBIS 250 / 7739
73
 (HPO:0000054) Micropenis 7506965 IBIS 257 / 7739
74
 (HPO:0000028) Cryptorchidism 7506965 IBIS 347 / 7739
75
 (HPO:0005329) Fixed facial expression 24649842 IBIS 1 / 7739
76
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 24649842 IBIS 44 / 7739
77
 (HPO:0001999) Abnormal facial shape 24649842 IBIS 169 / 7739
78
 (HPO:0000494) Downslanted palpebral fissures 24649842 IBIS 328 / 7739
79
 (HPO:0012368) Flat face 24649842 IBIS 106 / 7739
80
 (HPO:0000272) Malar flattening 24649842 IBIS 277 / 7739
81
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 24649842 IBIS 298 / 7739
82
 (HPO:0000175) Cleft palate Frequent [IBIS] 69% (n=16) 7506965 IBIS 349 / 7739
83
 (HPO:0000218) High palate Frequent [IBIS] 69% (n=16) 7506965 IBIS 356 / 7739
84
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 7081292 IBIS 188 / 7739
85
 (HPO:0000430) Underdeveloped nasal alae 24649842 IBIS 90 / 7739
86
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 24649842 IBIS 197 / 7739
87
 (HPO:0000506) Telecanthus Frequent [IBIS] 57% (n=7) 7506965 IBIS 156 / 7739
88
 (HPO:0000356) Abnormality of the outer ear 7081292 IBIS 85 / 7739
89
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 24649842 IBIS 328 / 7739
90
 (HPO:0000377) Abnormality of the pinna Very frequent [IBIS] 94% (n=17) 7506965 IBIS 111 / 7739
91
 (HPO:0000369) Low-set ears Very frequent [IBIS] 94% (n=17) 7506965 IBIS 372 / 7739
92
 (HPO:0001058) Poor wound healing 24649842 IBIS 9 / 7739
93
 (HPO:0000974) Hyperextensible skin 24649842 IBIS 59 / 7739
94
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 24649842 IBIS 88 / 7739
95
 (HPO:0000107) Renal cyst Occasional [Orphanet] 24649842 IBIS 126 / 7739
96
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 2202217 IBIS 127 / 7739
97
 (HPO:0000089) Renal hypoplasia 2202217 IBIS 78 / 7739
98
 (HPO:0012385) Camptodactyly Frequent [IBIS] 86% (n=7) 7506965 IBIS 113 / 7739
99
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 24649842 IBIS 45 / 7739
100
 (HPO:0002828) Multiple joint contractures 24649842 IBIS 16 / 7739
101
 (HPO:0008897) Postnatal growth retardation 7551165 IBIS 113 / 7739
102
 (HPO:0030680) Abnormality of cardiovascular system morphology 23162309 IBIS 355 / 7739
103
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 24649842 IBIS 137 / 7739
104
 (HPO:0001321) Cerebellar hypoplasia 24649842 IBIS 114 / 7739
105
 (HPO:0002059) Cerebral atrophy 24649842 IBIS 171 / 7739
106
 (HPO:0007266) Cerebral dysmyelination 24649842 IBIS 13 / 7739
107
 (HPO:0001522) Death in infancy Frequent [Orphanet] 23162309 IBIS 275 / 7739
108
 (HPO:0030148) Heart murmur 7506965 IBIS 29 / 7739
109
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 24649842 IBIS 278 / 7739
110
 (HPO:0002365) Hypoplasia of the brainstem 24649842 IBIS 41 / 7739
111
 (HPO:0007068) Inferior vermis hypoplasia 24649842 IBIS 6 / 7739
112
 (HPO:0003811) Neonatal death 15693875 IBIS 44 / 7739
113
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 24649842 IBIS 949 / 7739
114
 (MedDRA:10013976) Dyspraxia 24649842 IBIS 3 / 7739
115
 (OMIM) Absence of primitive reflexes 1519648 IBIS 1 / 7739

Associated genes:

PIEZO2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: