MCID: MRS004
MIFTS: 41

Marshall-Smith Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Bone diseases

Aliases & Classifications for Marshall-Smith Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Marshall-Smith Syndrome:

Name: Marshall-Smith Syndrome 51 11 47 24 53 69 26 12 13 67
Mrshss 24 69
Accelerated Skeletal Maturation-Peculiar Facies-Failure to Thrive Syndrome 53
 
Marinesco-Sjogren Syndrome 67
Mss 69

Characteristics:

Orphanet epidemiological data:

53
marshall-smith syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
marshall-smith syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM51 602535
Disease Ontology11 DOID:0050858
Orphanet53 ORPHA561
MESH via Orphanet39 C536026
UMLS via Orphanet68 C0265211
ICD10 via Orphanet30 Q87.3
MedGen36 C0265211

Summaries for Marshall-Smith Syndrome

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NIH Rare Diseases:47 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 congenital cataracts, facial dysmorphism, and neuropathy, and has symptoms including micrognathia, anteverted nares and proptosis. An important gene associated with Marshall-Smith Syndrome is NFIX (Nuclear Factor I X). Affiliated tissues include bone, skin and cerebellum, and related mouse phenotypes are craniofacial and behavior/neurological.

Disease Ontology:11 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.

OMIM:51 The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative... (602535) more...

UniProtKB/Swiss-Prot:69 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 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

Human phenotypes related to Marshall-Smith Syndrome:

 63 (show all 72)
id Description HPO Frequency HPO Source Accession
1 micrognathia63 hallmark (90%) HP:0000347
2 anteverted nares63 hallmark (90%) HP:0000463
3 proptosis63 hallmark (90%) HP:0000520
4 thin skin63 hallmark (90%) HP:0000963
5 hyperextensible skin63 hallmark (90%) HP:0000974
6 joint hypermobility63 hallmark (90%) HP:0001382
7 frontal bossing63 hallmark (90%) HP:0002007
8 respiratory insufficiency63 hallmark (90%) HP:0002093
9 skeletal dysplasia63 hallmark (90%) HP:0002652
10 slender long bone63 hallmark (90%) HP:0003100
11 depressed nasal bridge63 hallmark (90%) HP:0005280
12 accelerated skeletal maturation63 hallmark (90%) HP:0005616
13 bowing of the long bones63 hallmark (90%) HP:0006487
14 cognitive impairment63 hallmark (90%) HP:0100543
15 abnormality of the tongue63 typical (50%) HP:0000157
16 open mouth63 typical (50%) HP:0000194
17 hypertelorism63 typical (50%) HP:0000316
18 conductive hearing impairment63 typical (50%) HP:0000405
19 blue sclerae63 typical (50%) HP:0000592
20 bruising susceptibility63 typical (50%) HP:0000978
21 hypertrichosis63 typical (50%) HP:0000998
22 laryngomalacia63 typical (50%) HP:0001601
23 scoliosis63 typical (50%) HP:0002650
24 recurrent fractures63 typical (50%) HP:0002757
25 short nose63 typical (50%) HP:0003196
26 reduced bone mineral density63 typical (50%) HP:0004349
27 gingival overgrowth63 occasional (7.5%) HP:0000212
28 choanal atresia63 occasional (7.5%) HP:0000453
29 optic atrophy63 occasional (7.5%) HP:0000648
30 craniosynostosis63 occasional (7.5%) HP:0001363
31 ventriculomegaly63 occasional (7.5%) HP:0002119
32 aplasia/hypoplasia of the cerebellum63 occasional (7.5%) HP:0007360
33 tall stature63 HP:0000098
34 glossoptosis63 HP:0000162
35 malar flattening63 HP:0000272
36 retrognathia63 HP:0000278
37 short philtrum63 HP:0000322
38 hearing impairment63 HP:0000365
39 low-set ears63 HP:0000369
40 overfolded helix63 HP:0000396
41 choanal stenosis63 HP:0000452
42 thick eyebrow63 HP:0000574
43 shallow orbits63 HP:0000586
44 synophrys63 HP:0000664
45 pectus excavatum63 HP:0000767
46 short sternum63 HP:0000879
47 intellectual disability63 HP:0001249
48 muscular hypotonia63 HP:0001252
49 motor delay63 HP:0001270
50 agenesis of corpus callosum63 HP:0001274
51 failure to thrive63 HP:0001508
52 umbilical hernia63 HP:0001537
53 omphalocele63 HP:0001539
54 atria septal defect63 HP:0001631
55 patent ductus arteriosus63 HP:0001643
56 cerebral atrophy63 HP:0002059
57 pulmonary hypertension63 HP:0002092
58 recurrent aspiration pneumonia63 HP:0002100
59 obstructive sleep apnea63 HP:0002870
60 hypoplasia of the odontoid process63 HP:0003311
61 atlantoaxial dislocation63 HP:0003414
62 short mandibular rami63 HP:0003778
63 decreased body weight63 HP:0004325
64 distal widening of metacarpals63 HP:0006048
65 large sternal ossification centers63 HP:0006642
66 macrogyria63 HP:0007227
67 bullet-shaped middle phalanges of the hand63 HP:0009845
68 short distal phalanx of finger63 HP:0009882
69 prominence of the premaxilla63 HP:0010759
70 prominent forehead63 HP:0011220
71 midface retrusion63 HP:0011800
72 irregular dentition63 HP:0040079

UMLS symptoms related to Marshall-Smith Syndrome:


cerebellar ataxia, muscle spasticity, gait ataxia

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 Syndrome26 24 NFIX

Anatomical Context for Marshall-Smith Syndrome

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MalaCards organs/tissues related to Marshall-Smith Syndrome:

35
Bone, Skin, Cerebellum, Tongue, T cells

Animal Models for Marshall-Smith Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Marshall-Smith Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.5LRP2, NFIC, NFIX, SOX3
2MP:00053868.5CACNA1A, LRP2, NFIC, NFIX, SIL1, SOX3
3MP:00030127.7CACNA1A, LRP2, NSD1, OPTN, SOX3
4MP:00107686.9CACNA1A, F9, LRP2, NFIC, NFIX, NSD1

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
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. (21790824)
2011
8
Anesthesia out of surgical area in a child with Marshall-Smith Syndrome. (21273971)
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
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome. (20303330)
2010
11
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. (20673863)
2010
12
Phenotype and natural history in Marshall-Smith syndrome. (20949508)
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
Long-term follow-up of Marshall-Smith syndrome: report of one case. (15624371)
2004
18
Marshall Smith syndrome and pregnancy. (14766465)
2004
19
Marshall-Smith syndrome: Follow-up report of a four and a half year old male. (15054853)
2004
20
Osseous fragility in Marshall-Smith syndrome. (12749068)
2003
21
Marshall-Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. (12239732)
2002
22
Long-term survival of a patient with Marshall-Smith syndrome. (12038204)
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
Difficult airway in a patient with Marshall-Smith syndrome. (9742541)
1998
27
Neonatal death in Marshall-Smith syndrome. (9555581)
1998
28
The Marshall-Smith syndrome: a review of the laryngeal complications. (9208244)
1997
29
Marshall-Smith syndrome: the expanding phenotype. (9350818)
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 23)
id Gene Variation Type Significance SNP ID Assembly Location
1SIL1NM_001037633.1(SIL1): c.460C> T (p.Gln154Ter)SNVPathogenicrs774441811GRCh37Chr 5, 138362675: 138362675
2NFIXNM_002501.3(NFIX): c.1080_1096del17 (p.Ser361Ilefs)deletionPathogenicrs797045737GRCh38Chr 19, 13081681: 13081697
3NFIXNM_002501.3(NFIX): c.970_971delAA (p.Lys324Glufs)deletionPathogenicrs797045738GRCh37Chr 19, 13189441: 13189442
4SIL1SIL1, 4-BP DUP, 506AAGAduplicationPathogenicChr na, -1: -1
5SIL1NM_022464.4(SIL1): c.645+1G> ASNVPathogenicrs794726659GRCh37Chr 5, 138362489: 138362489
6SIL1NM_022464.4(SIL1): c.645+2T> CSNVPathogenicrs548535414GRCh37Chr 5, 138362488: 138362488
7SIL1NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter)SNVPathogenicrs119456965GRCh37Chr 5, 138386649: 138386649
8SIL1NM_022464.4(SIL1): c.865_1029delSNVPathogenicrs777752978GRCh38Chr 5, 138951170: 138951170
9SIL1NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter)SNVPathogenicrs119456966GRCh37Chr 5, 138282880: 138282880
10SIL1NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro)SNVPathogenicrs119456967GRCh37Chr 5, 138282822: 138282822
11SIL1NM_001037633.1(SIL1): c.936dupG (p.Leu313Alafs)duplicationPathogenicrs587776544GRCh38Chr 5, 138951264: 138951264
12SIL1NM_001037633.1(SIL1): c.603_607delGAAGA (p.Glu201Aspfs)deletionPathogenicrs869320725GRCh38Chr 5, 139026839: 139026843
13SIL1NC_000005.10: g.138975444_139033712del58269deletionPathogenicGRCh38Chr 5, 138975444: 139033712
14SIL1NM_001037633.1(SIL1): c.1205delG (p.Gly402Alafs)deletionPathogenicrs886043087GRCh37Chr 5, 138282987: 138282987
15NFIXNM_002501.3(NFIX): c.1011_1012delTC (p.Gln338Glyfs)deletionPathogenicrs398122869GRCh37Chr 19, 13189482: 13189483
16NFIXNM_002501.3(NFIX): c.1037dupT (p.Thr347Hisfs)duplicationPathogenicrs398122870GRCh37Chr 19, 13189508: 13189508
17NFIXNM_002501.3(NFIX): c.1008_1012delCTCTC (p.Ser337Glyfs)deletionPathogenicrs398122871GRCh37Chr 19, 13189479: 13189483
18NFIXNM_002501.3(NFIX): c.1049dupC (p.Leu351Alafs)duplicationPathogenicrs398122872GRCh37Chr 19, 13189520: 13189520
19NFIXNM_002501.3(NFIX): c.1243delG (p.Ala415Profs)deletionPathogenicrs398122873GRCh37Chr 19, 13192658: 13192658
20NFIXNM_002501.3(NFIX): c.994dupT (p.Cys332Leufs)duplicationPathogenicrs398122874GRCh37Chr 19, 13189465: 13189465
21NFIXNM_002501.3(NFIX): c.959dupC (p.Ala321Glyfs)duplicationPathogenicrs398122875GRCh37Chr 19, 13189430: 13189430
22NFIXNM_002501.3(NFIX): c.955+1G> ASNVPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486
23NFIXNM_002501.3(NFIX): c.955+1G> TSNVPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486

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
1cell deathGO:00082199.5CACNA1A, OPTN
2negative regulation of transcription from RNA polymerase II promoterGO:00001228.9NFIC, NFIX, NSD1, SOX3

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.7NSD1, SOX3

Sources for Marshall-Smith Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet