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

Aliases & Descriptions for Marshall-Smith Syndrome:

Name: Marshall-Smith Syndrome 54 12 50 24 56 66 29 13 14 69
Mrshss 24 66
Accelerated Skeletal Maturation-Peculiar Facies-Failure to Thrive Syndrome 56
Mss 66

Characteristics:

Orphanet epidemiological data:

56
marshall-smith syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
marshall-smith syndrome:
Inheritance autosomal dominant inheritance sporadic
Mortality/Aging death in childhood


Classifications:



External Ids:

OMIM 54 602535
Disease Ontology 12 DOID:0050858
Orphanet 56 ORPHA561
MESH via Orphanet 43 C536026
UMLS via Orphanet 70 C0265211
ICD10 via Orphanet 34 Q87.3
MedGen 40 C0265211

Summaries for Marshall-Smith Syndrome

NIH Rare Diseases : 50 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 malar flattening, low-set ears and pectus excavatum. An important gene associated with Marshall-Smith Syndrome is NFIX (Nuclear Factor I X). Affiliated tissues include bone, t cells and skin, and related phenotypes are mortality/aging and nervous system

Disease Ontology : 12 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.

OMIM : 54 The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative... (602535) more...

UniProtKB/Swiss-Prot : 66 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

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



Diseases related to Marshall-Smith Syndrome

Symptoms & Phenotypes for Marshall-Smith Syndrome

Symptoms by clinical synopsis from OMIM:

602535

Clinical features from OMIM:

602535

Human phenotypes related to Marshall-Smith Syndrome:

32 (show top 50) (show all 51)
id Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 low-set ears 32 HP:0000369
3 pectus excavatum 32 HP:0000767
4 agenesis of corpus callosum 32 HP:0001274
5 frontal bossing 32 HP:0002007
6 intellectual disability 32 HP:0001249
7 muscular hypotonia 32 HP:0001252
8 failure to thrive 32 HP:0001508
9 scoliosis 32 HP:0002650
10 gingival overgrowth 32 HP:0000212
11 hearing impairment 32 HP:0000365
12 depressed nasal bridge 32 HP:0005280
13 umbilical hernia 32 HP:0001537
14 short nose 32 HP:0003196
15 anteverted nares 32 HP:0000463
16 thick eyebrow 32 HP:0000574
17 laryngomalacia 32 HP:0001601
18 prominent forehead 32 HP:0011220
19 glossoptosis 32 HP:0000162
20 retrognathia 32 HP:0000278
21 patent ductus arteriosus 32 HP:0001643
22 short philtrum 32 HP:0000322
23 overfolded helix 32 HP:0000396
24 choanal atresia 32 HP:0000453
25 obstructive sleep apnea 32 HP:0002870
26 midface retrusion 32 HP:0011800
27 short distal phalanx of finger 32 HP:0009882
28 synophrys 32 HP:0000664
29 decreased body weight 32 HP:0004325
30 blue sclerae 32 HP:0000592
31 tall stature 32 HP:0000098
32 motor delay 32 HP:0001270
33 omphalocele 32 HP:0001539
34 accelerated skeletal maturation 32 HP:0005616
35 choanal stenosis 32 HP:0000452
36 cerebral atrophy 32 HP:0002059
37 hypoplasia of the odontoid process 32 HP:0003311
38 slender long bone 32 HP:0003100
39 short mandibular rami 32 HP:0003778
40 irregular dentition 32 HP:0040079
41 atlantoaxial dislocation 32 HP:0003414
42 shallow orbits 32 HP:0000586
43 atrial septal defect 32 HP:0001631
44 pulmonary arterial hypertension 32 HP:0002092
45 short sternum 32 HP:0000879
46 prominence of the premaxilla 32 HP:0010759
47 recurrent aspiration pneumonia 32 HP:0002100
48 macrogyria 32 HP:0007227
49 distal widening of metacarpals 32 HP:0006048
50 large sternal ossification centers 32 HP:0006642

MGI Mouse Phenotypes related to Marshall-Smith Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.81 CACNA1A F9 LRP2 NFIC NFIX NSD1
2 nervous system MP:0003631 9.5 GNRH1 LRP2 NFIC NFIX SIL1 SOX3
3 no phenotypic analysis MP:0003012 9.02 CACNA1A LRP2 NSD1 OPTN SOX3

Drugs & Therapeutics for Marshall-Smith Syndrome

Search Clinical Trials , NIH Clinical Center for Marshall-Smith Syndrome

Genetic Tests for Marshall-Smith Syndrome

Genetic tests related to Marshall-Smith Syndrome:

id Genetic test Affiliating Genes
1 Marshall-Smith Syndrome 29 24 NFIX

Anatomical Context for Marshall-Smith Syndrome

MalaCards organs/tissues related to Marshall-Smith Syndrome:

39
Bone, T Cells, Skin

Publications for Marshall-Smith Syndrome

Articles related to Marshall-Smith Syndrome:

(show all 40)
id Title Authors Year
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

ClinVar genetic disease variations for Marshall-Smith Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 NFIX NM_002501.3(NFIX): c.1011_1012delTC (p.Gln338Glyfs) deletion Pathogenic rs398122869 GRCh37 Chromosome 19, 13189482: 13189483
2 NFIX NM_002501.3(NFIX): c.1037dupT (p.Thr347Hisfs) duplication Pathogenic rs398122870 GRCh37 Chromosome 19, 13189508: 13189508
3 NFIX NM_002501.3(NFIX): c.1008_1012delCTCTC (p.Ser337Glyfs) deletion Pathogenic rs398122871 GRCh37 Chromosome 19, 13189479: 13189483
4 NFIX NM_002501.3(NFIX): c.1049dupC (p.Leu351Alafs) duplication Pathogenic rs398122872 GRCh37 Chromosome 19, 13189520: 13189520
5 NFIX NM_002501.3(NFIX): c.1243delG (p.Ala415Profs) deletion Pathogenic rs398122873 GRCh37 Chromosome 19, 13192658: 13192658
6 NFIX NM_002501.3(NFIX): c.994dupT (p.Cys332Leufs) duplication Pathogenic rs398122874 GRCh37 Chromosome 19, 13189465: 13189465
7 NFIX NM_002501.3(NFIX): c.959dupC (p.Ala321Glyfs) duplication Pathogenic rs398122875 GRCh37 Chromosome 19, 13189430: 13189430
8 NFIX NM_002501.3(NFIX): c.955+1G> A single nucleotide variant Pathogenic rs398122876 GRCh37 Chromosome 19, 13186486: 13186486
9 NFIX NM_002501.3(NFIX): c.955+1G> T single nucleotide variant Pathogenic rs398122876 GRCh37 Chromosome 19, 13186486: 13186486
10 NFIX NM_002501.3(NFIX): c.970_971delAA (p.Lys324Glufs) deletion Pathogenic rs797045738 GRCh37 Chromosome 19, 13189441: 13189442
11 NFIX NM_002501.3(NFIX): c.1080_1096del17 (p.Ser361Ilefs) deletion Pathogenic rs797045737 GRCh37 Chromosome 19, 13192495: 13192511

Expression for Marshall-Smith Syndrome

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

Pathways for Marshall-Smith Syndrome

GO Terms for Marshall-Smith Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.26 NFIC NFIX NSD1 SOX3
2 cell death GO:0008219 8.62 CACNA1A OPTN

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.62 NSD1 SOX3

Sources for Marshall-Smith Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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