MRSHSS
MCID: MRS004
MIFTS: 40

Marshall-Smith Syndrome (MRSHSS) malady

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

Aliases & Classifications for Marshall-Smith Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Marshall-Smith Syndrome:

Name: Marshall-Smith Syndrome 52 11 48 24 54 70 27 12 13 68
Mrshss 24 70
 
Accelerated Skeletal Maturation-Peculiar Facies-Failure to Thrive Syndrome 54
Mss 70

Characteristics:

Orphanet epidemiological data:

54
marshall-smith syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
marshall-smith syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM52 602535
Disease Ontology11 DOID:0050858
Orphanet54 ORPHA561
MESH via Orphanet40 C536026
UMLS via Orphanet69 C0265211
ICD10 via Orphanet31 Q87.3
MedGen37 C0265211

Summaries for Marshall-Smith Syndrome

About this section
NIH Rare Diseases:48 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 tall stature, glossoptosis and gingival overgrowth. An important gene associated with Marshall-Smith Syndrome is NFIX (Nuclear Factor I X). Affiliated tissues include bone, t cells and skin, and related mouse phenotypes are no phenotypic analysis and nervous system.

UniProtKB/Swiss-Prot:70 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.

OMIM:52 The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative... (602535) more...

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

Related Diseases for Marshall-Smith Syndrome

About this section

Graphical network of diseases related to Marshall-Smith Syndrome:



Diseases related to marshall-smith syndrome

Symptoms & Phenotypes for Marshall-Smith Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

602535

Clinical features from OMIM:

602535

Human phenotypes related to Marshall-Smith Syndrome:

 64 (show all 51)
id Description HPO Frequency HPO Source Accession
1 tall stature64 HP:0000098
2 glossoptosis64 HP:0000162
3 gingival overgrowth64 HP:0000212
4 malar flattening64 HP:0000272
5 retrognathia64 HP:0000278
6 short philtrum64 HP:0000322
7 hearing impairment64 HP:0000365
8 low-set ears64 HP:0000369
9 overfolded helix64 HP:0000396
10 choanal stenosis64 HP:0000452
11 choanal atresia64 HP:0000453
12 anteverted nares64 HP:0000463
13 thick eyebrow64 HP:0000574
14 shallow orbits64 HP:0000586
15 blue sclerae64 HP:0000592
16 synophrys64 HP:0000664
17 pectus excavatum64 HP:0000767
18 short sternum64 HP:0000879
19 intellectual disability64 HP:0001249
20 muscular hypotonia64 HP:0001252
21 motor delay64 HP:0001270
22 agenesis of corpus callosum64 HP:0001274
23 failure to thrive64 HP:0001508
24 umbilical hernia64 HP:0001537
25 omphalocele64 HP:0001539
26 laryngomalacia64 HP:0001601
27 atrial septal defect64 HP:0001631
28 patent ductus arteriosus64 HP:0001643
29 frontal bossing64 HP:0002007
30 cerebral atrophy64 HP:0002059
31 pulmonary arterial hypertension64 HP:0002092
32 recurrent aspiration pneumonia64 HP:0002100
33 scoliosis64 HP:0002650
34 obstructive sleep apnea64 HP:0002870
35 slender long bone64 HP:0003100
36 short nose64 HP:0003196
37 hypoplasia of the odontoid process64 HP:0003311
38 atlantoaxial dislocation64 HP:0003414
39 short mandibular rami64 HP:0003778
40 decreased body weight64 HP:0004325
41 depressed nasal bridge64 HP:0005280
42 accelerated skeletal maturation64 HP:0005616
43 distal widening of metacarpals64 HP:0006048
44 large sternal ossification centers64 HP:0006642
45 macrogyria64 HP:0007227
46 bullet-shaped middle phalanges of the hand64 HP:0009845
47 short distal phalanx of finger64 HP:0009882
48 prominence of the premaxilla64 HP:0010759
49 prominent forehead64 HP:0011220
50 midface retrusion64 HP:0011800
51 irregular dentition64 HP:0040079

MGI Mouse Phenotypes related to Marshall-Smith Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.2CACNA1A, LRP2, NSD1, OPTN, SOX3
2MP:00036317.7CACNA1A, GNRH1, LRP2, NFIC, NFIX, SIL1
3MP:00107687.4CACNA1A, F9, LRP2, NFIC, NFIX, NSD1

Drugs & Therapeutics for Marshall-Smith Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Marshall-Smith Syndrome

Genetic Tests for Marshall-Smith Syndrome

About this section

Genetic tests related to Marshall-Smith Syndrome:

id Genetic test Affiliating Genes
1 Marshall-Smith Syndrome27 24 NFIX

Anatomical Context for Marshall-Smith Syndrome

About this section

MalaCards organs/tissues related to Marshall-Smith Syndrome:

36
Bone, T cells, Skin

Publications for Marshall-Smith Syndrome

About this section

Articles related to Marshall-Smith Syndrome:

(show all 40)
idTitleAuthorsYear
1
Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation. (28442439)
2017
2
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. (26200704)
2015
3
Marshall-Smith syndrome. (25813678)
2015
4
Neonatal Marshall-Smith syndrome. (24556605)
2014
5
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
6
Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome. (23943225)
2013
7
Anesthesia out of surgical area in a child with Marshall-Smith Syndrome. (21273971)
2011
8
A pigmentary skin defect is a new finding in Marshall-Smith syndrome. (21739579)
2011
9
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. (21790824)
2011
10
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome. (20303330)
2010
11
Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report. (20731866)
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
Phenotype and natural history in Marshall-Smith syndrome. (20949508)
2010
14
Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome. (18315650)
2008
15
Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. (18627063)
2008
16
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. (16531739)
2006
17
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. (16086394)
2005
18
Marshall-Smith syndrome: Follow-up report of a four and a half year old male. (15054853)
2004
19
Marshall Smith syndrome and pregnancy. (14766465)
2004
20
Long-term follow-up of Marshall-Smith syndrome: report of one case. (15624371)
2004
21
Osseous fragility in Marshall-Smith syndrome. (12749068)
2003
22
Long-term survival of a patient with Marshall-Smith syndrome. (12038204)
2002
23
Marshall-Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. (12239732)
2002
24
Marshall-Smith syndrome: case report of a newborn male and review of the literature. (10457856)
1999
25
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome. (10406675)
1999
26
Neonatal death in Marshall-Smith syndrome. (9555581)
1998
27
Difficult airway in a patient with Marshall-Smith syndrome. (9742541)
1998
28
Anaesthetic management of a child with Marshall-Smith syndrome. (9717599)
1998
29
The Marshall-Smith syndrome: a review of the laryngeal complications. (9208244)
1997
30
Marshall-Smith syndrome: the expanding phenotype. (9350818)
1997
31
Marshall-Smith syndrome: a distinct entity. (7883370)
1994
32
Long survival of a patient with Marshall-Smith syndrome without respiratory complications. (8230168)
1993
33
Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. Case report. (2072173)
1991
34
Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations. (1909446)
1991
35
The Marshall-Smith syndrome. (2079077)
1990
36
Marshall-Smith syndrome: new aspects. (3205374)
1988
37
Marshall-Smith syndrome: further delineation. (3051433)
1988
38
Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations. (6823423)
1983
39
Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges. (758435)
1979
40
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

About this section

Clinvar genetic disease variations for Marshall-Smith Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1NFIXNM_ 002501.3(NFIX): c.1080_ 1096del17 (p.Ser361Ilefs)deletionPathogenicrs797045737GRCh37Chr 19, 13192495: 13192511
2NFIXNM_ 002501.3(NFIX): c.970_ 971delAA (p.Lys324Glufs)deletionPathogenicrs797045738GRCh37Chr 19, 13189441: 13189442
3NFIXNM_ 002501.3(NFIX): c.1011_ 1012delTC (p.Gln338Glyfs)deletionPathogenicrs398122869GRCh37Chr 19, 13189482: 13189483
4NFIXNM_ 002501.3(NFIX): c.1037dupT (p.Thr347Hisfs)duplicationPathogenicrs398122870GRCh37Chr 19, 13189508: 13189508
5NFIXNM_ 002501.3(NFIX): c.1008_ 1012delCTCTC (p.Ser337Glyfs)deletionPathogenicrs398122871GRCh37Chr 19, 13189479: 13189483
6NFIXNM_ 002501.3(NFIX): c.1049dupC (p.Leu351Alafs)duplicationPathogenicrs398122872GRCh37Chr 19, 13189520: 13189520
7NFIXNM_ 002501.3(NFIX): c.1243delG (p.Ala415Profs)deletionPathogenicrs398122873GRCh37Chr 19, 13192658: 13192658
8NFIXNM_ 002501.3(NFIX): c.994dupT (p.Cys332Leufs)duplicationPathogenicrs398122874GRCh37Chr 19, 13189465: 13189465
9NFIXNM_ 002501.3(NFIX): c.959dupC (p.Ala321Glyfs)duplicationPathogenicrs398122875GRCh37Chr 19, 13189430: 13189430
10NFIXNM_ 002501.3(NFIX): c.955+1G> ASNVPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486
11NFIXNM_ 002501.3(NFIX): c.955+1G> TSNVPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486

Expression for genes affiliated with Marshall-Smith Syndrome

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

Pathways for genes affiliated with Marshall-Smith Syndrome

About this section

GO Terms for genes affiliated with Marshall-Smith Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:000821910.2CACNA1A, OPTN
2negative regulation of transcription from RNA polymerase II promoterGO:00001228.7NFIC, 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:00009799.6NSD1, SOX3

Sources for Marshall-Smith Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet