MCID: MRS004
MIFTS: 47

Marshall-Smith Syndrome malady

Genetic diseases, Rare diseases, Fetal diseases, Bone diseases categories

Aliases & Classifications for Marshall-Smith Syndrome

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Sources:
65UMLS, 49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Marshall-Smith Syndrome:

Name: Marshall-Smith Syndrome 49 10 11 45 22 12 51 24 65 67
Mrshss 22 67
Accelerated Skeletal Maturation - Peculiar Facies - Failure to Thrive 51
 
Weaver Syndrome 65
Mss 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
marshall-smith syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 602535
Disease Ontology10 DOID:0050858
Orphanet51 561
ICD10 via Orphanet28 Q87.3
MESH via Orphanet37 C536026
UMLS via Orphanet66 C0265211
MedGen34 C0265211

Summaries for Marshall-Smith Syndrome

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NIH Rare Diseases:45 Marshall-smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. less than 40 cases have been reported in the literature, mostly as single case reports or small series. early death is common due to respiratory complications. the cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition.  last updated: 1/15/2010

MalaCards based summary: Marshall-Smith Syndrome, also known as mrshss, is related to marinesco-sjogren syndrome and laryngitis, and has symptoms including micrognathia, anteverted nares and proptosis. An important gene associated with Marshall-Smith Syndrome is NFIX (Nuclear Factor I/X (CCAAT-Binding Transcription Factor)). Affiliated tissues include bone, skin and cerebellum, and related mouse phenotypes are no phenotypic analysis and nervous system.

Disease Ontology:10 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.

OMIM:49 The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative... (602535) more...

UniProtKB/Swiss-Prot:67 Marshall-Smith syndrome: A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis.

Related Diseases for Marshall-Smith Syndrome

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Graphical network of the top 20 diseases related to Marshall-Smith Syndrome:



Diseases related to marshall-smith syndrome

Symptoms for Marshall-Smith Syndrome

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Symptoms by clinical synopsis from OMIM:

602535

Clinical features from OMIM:

602535

Symptoms:

 51 (show all 36)
  • frontal bossing/prominent forehead
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • depressed nasal bridge
  • anteverted nares/nostrils
  • thin skin
  • hyperelastic skin/cutaneous hyperlaxity
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • advanced bone age
  • bowed diaphysis/diaphyses/long bones
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • hyperextensible joints/articular hyperlaxity
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hypertelorism
  • blue sclerae
  • short/small nose
  • mouth held open
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • conductive deafness/hearing loss
  • scoliosis
  • ecchymoses
  • hirsutism/hypertrichosis/increased body hair
  • laryngomalacia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • stillbirth/neonatal death
  • death in infancy
  • craniostenosis/craniosynostosis/sutural synostosis
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • choanal atresia
  • thickened/hypertrophic/fibromatous gingivae
  • congenital cardiac anomaly/malformation/cardiopathy
  • dilated cerebral ventricles without hydrocephaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia

HPO human phenotypes related to Marshall-Smith Syndrome:

(show all 87)
id Description Frequency HPO Source Accession
1 micrognathia hallmark (90%) HP:0000347
2 anteverted nares hallmark (90%) HP:0000463
3 proptosis hallmark (90%) HP:0000520
4 thin skin hallmark (90%) HP:0000963
5 hyperextensible skin hallmark (90%) HP:0000974
6 joint hypermobility hallmark (90%) HP:0001382
7 frontal bossing hallmark (90%) HP:0002007
8 respiratory insufficiency hallmark (90%) HP:0002093
9 skeletal dysplasia hallmark (90%) HP:0002652
10 slender long bone hallmark (90%) HP:0003100
11 depressed nasal bridge hallmark (90%) HP:0005280
12 accelerated skeletal maturation hallmark (90%) HP:0005616
13 bowing of the long bones hallmark (90%) HP:0006487
14 cognitive impairment hallmark (90%) HP:0100543
15 abnormality of the tongue typical (50%) HP:0000157
16 open mouth typical (50%) HP:0000194
17 hypertelorism typical (50%) HP:0000316
18 conductive hearing impairment typical (50%) HP:0000405
19 blue sclerae typical (50%) HP:0000592
20 bruising susceptibility typical (50%) HP:0000978
21 hypertrichosis typical (50%) HP:0000998
22 laryngomalacia typical (50%) HP:0001601
23 scoliosis typical (50%) HP:0002650
24 recurrent fractures typical (50%) HP:0002757
25 short nose typical (50%) HP:0003196
26 reduced bone mineral density typical (50%) HP:0004349
27 gingival overgrowth occasional (7.5%) HP:0000212
28 choanal atresia occasional (7.5%) HP:0000453
29 optic atrophy occasional (7.5%) HP:0000648
30 craniosynostosis occasional (7.5%) HP:0001363
31 ventriculomegaly occasional (7.5%) HP:0002119
32 malformation of the heart and great vessels occasional (7.5%) HP:0002564
33 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
34 autosomal dominant inheritance HP:0000006
35 tall stature HP:0000098
36 glossoptosis HP:0000162
37 gingival overgrowth HP:0000212
38 malar flattening HP:0000272
39 retrognathia HP:0000278
40 short philtrum HP:0000322
41 hearing impairment HP:0000365
42 low-set ears HP:0000369
43 overfolded helix HP:0000396
44 choanal stenosis HP:0000452
45 choanal atresia HP:0000453
46 anteverted nares HP:0000463
47 thick eyebrow HP:0000574
48 shallow orbits HP:0000586
49 blue sclerae HP:0000592
50 synophrys HP:0000664
51 pectus excavatum HP:0000767
52 short sternum HP:0000879
53 intellectual disability HP:0001249
54 muscular hypotonia HP:0001252
55 motor delay HP:0001270
56 agenesis of corpus callosum HP:0001274
57 failure to thrive HP:0001508
58 umbilical hernia HP:0001537
59 omphalocele HP:0001539
60 laryngomalacia HP:0001601
61 atria septal defect HP:0001631
62 patent ductus arteriosus HP:0001643
63 frontal bossing HP:0002007
64 cerebral atrophy HP:0002059
65 pulmonary hypertension HP:0002092
66 recurrent aspiration pneumonia HP:0002100
67 scoliosis HP:0002650
68 obstructive sleep apnea HP:0002870
69 slender long bone HP:0003100
70 short nose HP:0003196
71 hypoplasia of the odontoid process HP:0003311
72 atlantoaxial dislocation HP:0003414
73 sporadic HP:0003745
74 short mandibular rami HP:0003778
75 death in childhood HP:0003819
76 decreased body weight HP:0004325
77 depressed nasal bridge HP:0005280
78 accelerated skeletal maturation HP:0005616
79 distal widening of metacarpals HP:0006048
80 large sternal ossification centers HP:0006642
81 macrogyria HP:0007227
82 bullet-shaped middle phalanges of the hand HP:0009845
83 short distal phalanx of finger HP:0009882
84 prominence of the premaxilla HP:0010759
85 prominent forehead HP:0011220
86 hypoplasia of midface HP:0011800
87 irregular dentition HP:0040079

Drugs & Therapeutics for Marshall-Smith Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Marshall-Smith Syndrome

Genetic Tests for Marshall-Smith Syndrome

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Genetic tests related to Marshall-Smith Syndrome:

id Genetic test Affiliating Genes
1 Marshall-Smith Syndrome22 24 NFIX

Anatomical Context for Marshall-Smith Syndrome

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MalaCards organs/tissues related to Marshall-Smith Syndrome:

33
Bone, Skin, Cerebellum, Tongue, Lung, Heart, T cells

Animal Models for Marshall-Smith Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Marshall-Smith Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.3CACNA1A, EZH2, LRP2, NSD1, SOX3
2MP:00036317.4CACNA1A, EZH2, LRP2, NFIX, SIL1, SOX3
3MP:00053867.1CACNA1A, EZH2, LRP2, NFIX, SIL1, SOX3
4MP:00107687.1CACNA1A, EZH2, LRP2, NFIX, NSD1, SIL1

Publications for Marshall-Smith Syndrome

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Articles related to Marshall-Smith Syndrome:

(show all 39)
idTitleAuthorsYear
1
Marshall-Smith syndrome. (25813678)
2015
2
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. (26200704)
2015
3
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. (24924640)
2014
4
Neonatal Marshall-Smith syndrome. (24556605)
2014
5
Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome. (23943225)
2013
6
A pigmentary skin defect is a new finding in Marshall-Smith syndrome. (21739579)
2011
7
Anesthesia out of surgical area in a child with Marshall-Smith Syndrome. (21273971)
2011
8
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. (21790824)
2011
9
Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report. (20731866)
2010
10
Phenotype and natural history in Marshall-Smith syndrome. (20949508)
2010
11
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome. (20303330)
2010
12
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. (20673863)
2010
13
Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. (18627063)
2008
14
Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome. (18315650)
2008
15
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. (16531739)
2006
16
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. (16086394)
2005
17
Marshall Smith syndrome and pregnancy. (14766465)
2004
18
Marshall-Smith syndrome: Follow-up report of a four and a half year old male. (15054853)
2004
19
Long-term follow-up of Marshall-Smith syndrome: report of one case. (15624371)
2004
20
Osseous fragility in Marshall-Smith syndrome. (12749068)
2003
21
Long-term survival of a patient with Marshall-Smith syndrome. (12038204)
2002
22
Marshall-Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. (12239732)
2002
23
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome. (10406675)
1999
24
Marshall-Smith syndrome: case report of a newborn male and review of the literature. (10457856)
1999
25
Anaesthetic management of a child with Marshall-Smith syndrome. (9717599)
1998
26
Neonatal death in Marshall-Smith syndrome. (9555581)
1998
27
Difficult airway in a patient with Marshall-Smith syndrome. (9742541)
1998
28
Marshall-Smith syndrome: the expanding phenotype. (9350818)
1997
29
The Marshall-Smith syndrome: a review of the laryngeal complications. (9208244)
1997
30
Marshall-Smith syndrome: a distinct entity. (7883370)
1994
31
Long survival of a patient with Marshall-Smith syndrome without respiratory complications. (8230168)
1993
32
Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. Case report. (2072173)
1991
33
Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations. (1909446)
1991
34
The Marshall-Smith syndrome. (2079077)
1990
35
Marshall-Smith syndrome: further delineation. (3051433)
1988
36
Marshall-Smith syndrome: new aspects. (3205374)
1988
37
Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations. (6823423)
1983
38
Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges. (758435)
1979
39
The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations. (The so-called Marshall-Smith syndrome). (827733)
1976

Variations for Marshall-Smith Syndrome

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Clinvar genetic disease variations for Marshall-Smith Syndrome:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1EZH2NM_004456.4(EZH2): c.1876G> A (p.Val626Met)single nucleotide variantPathogenicrs587783625GRCh37Chr 7, 148508788: 148508788
2EZH2NM_004456.4(EZH2): c.2050C> T (p.Arg684Cys)single nucleotide variantPathogenicrs587783626GRCh37Chr 7, 148506462: 148506462
3EZH2NM_004456.4(EZH2): c.458A> G (p.Tyr153Cys)single nucleotide variantPathogenicrs797044844GRCh37Chr 7, 148526846: 148526846
4EZH2NM_004456.4(EZH2): c.2187dupT (p.Asp730Terfs)duplicationPathogenicrs797045568GRCh37Chr 7, 148506171: 148506171
5NFIXNM_002501.3(NFIX): c.1080_1096del17 (p.Ser361Ilefs)deletionPathogenicrs797045737GRCh38Chr 19, 13081681: 13081697
6NFIXNM_002501.3(NFIX): c.970_971delAA (p.Lys324Glufs)deletionPathogenicrs797045738GRCh37Chr 19, 13189441: 13189442
7EZH2EZH2, 3-BP DEL, NT457deletionPathogenic
8EZH2NM_004456.4(EZH2): c.2080C> T (p.His694Tyr)single nucleotide variantPathogenicrs193921147GRCh37Chr 7, 148506432: 148506432
9EZH2NM_004456.4(EZH2): c.394C> T (p.Pro132Ser)single nucleotide variantPathogenicrs193921148GRCh37Chr 7, 148526910: 148526910
10NFIXNM_002501.3(NFIX): c.1011_1012delTC (p.Gln338Glyfs)deletionPathogenicrs398122869GRCh37Chr 19, 13189482: 13189483
11NFIXNM_002501.3(NFIX): c.1037dupT (p.Thr347Hisfs)duplicationPathogenicrs398122870GRCh37Chr 19, 13189508: 13189508
12NFIXNM_002501.3(NFIX): c.1008_1012delCTCTC (p.Ser337Glyfs)deletionPathogenicrs398122871GRCh37Chr 19, 13189479: 13189483
13NFIXNM_002501.3(NFIX): c.1049dupC (p.Leu351Alafs)duplicationPathogenicrs398122872GRCh37Chr 19, 13189520: 13189520
14NFIXNM_002501.3(NFIX): c.1243delG (p.Ala415Profs)deletionPathogenicrs398122873GRCh37Chr 19, 13192658: 13192658
15NFIXNM_002501.3(NFIX): c.994dupT (p.Cys332Leufs)duplicationPathogenicrs398122874GRCh37Chr 19, 13189465: 13189465
16NFIXNM_002501.3(NFIX): c.959dupC (p.Ala321Glyfs)duplicationPathogenicrs398122875GRCh37Chr 19, 13189430: 13189430
17NFIXNM_002501.3(NFIX): c.955+1G> Asingle nucleotide variantPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486
18NFIXNM_002501.3(NFIX): c.955+1G> Tsingle nucleotide variantPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486
19EZH2NM_004456.4(EZH2): c.2044G> A (p.Ala682Thr)single nucleotide variantPathogenicrs397515547GRCh37Chr 7, 148506468: 148506468
20EZH2NM_004456.4(EZH2): c.2233G> A (p.Glu745Lys)single nucleotide variantPathogenicrs397515548GRCh37Chr 7, 148504761: 148504761

Expression for genes affiliated with Marshall-Smith Syndrome

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Search GEO for disease gene expression data for Marshall-Smith Syndrome.

Pathways for genes affiliated with Marshall-Smith Syndrome

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GO Terms for genes affiliated with Marshall-Smith Syndrome

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Biological processes related to Marshall-Smith Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone methylationGO:001657110.1EZH2, NSD1
2cerebellar Purkinje cell layer developmentGO:00216809.9CACNA1A, NFIX
3forebrain developmentGO:00309009.6LRP2, SOX3
4cell deathGO:00082199.5CACNA1A, OPTN
5negative regulation of transcription from RNA polymerase II promoterGO:00001229.0EZH2, NFIX, NSD1, SOX3

Molecular functions related to Marshall-Smith Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone-lysine N-methyltransferase activityGO:00180249.8EZH2, NSD1
2RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.3NSD1, SOX3

Sources for Marshall-Smith Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet