MCID: MRS004
MIFTS: 42

Marshall-Smith Syndrome malady

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

Aliases & Classifications for Marshall-Smith Syndrome

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Marshall-Smith Syndrome:

Name: Marshall-Smith Syndrome 50 11 46 23 13 52 68 25 12 66
Mrshss 23 68
 
Accelerated Skeletal Maturation-Peculiar Facies-Failure to Thrive Syndrome 52
Mss 68

Characteristics:

Orphanet epidemiological data:

52
marshall-smith syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
marshall-smith syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Mortality/Aging: death in childhood


Classifications:



External Ids:

OMIM50 602535
Disease Ontology11 DOID:0050858
Orphanet52 ORPHA561
ICD10 via Orphanet29 Q87.3
MESH via Orphanet38 C536026
UMLS via Orphanet67 C0265211
MedGen35 C0265211

Summaries for Marshall-Smith Syndrome

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NIH Rare Diseases:46 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 short-rib thoracic dysplasia 9 with or without polydactyly, 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 no phenotypic analysis.

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

UniProtKB/Swiss-Prot:68 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

HPO human phenotypes related to Marshall-Smith Syndrome:

(show all 83)
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 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
33 tall stature HP:0000098
34 glossoptosis HP:0000162
35 gingival overgrowth HP:0000212
36 malar flattening HP:0000272
37 retrognathia HP:0000278
38 short philtrum HP:0000322
39 hearing impairment HP:0000365
40 low-set ears HP:0000369
41 overfolded helix HP:0000396
42 choanal stenosis HP:0000452
43 choanal atresia HP:0000453
44 anteverted nares HP:0000463
45 thick eyebrow HP:0000574
46 shallow orbits HP:0000586
47 blue sclerae HP:0000592
48 synophrys HP:0000664
49 pectus excavatum HP:0000767
50 short sternum HP:0000879
51 intellectual disability HP:0001249
52 muscular hypotonia HP:0001252
53 motor delay HP:0001270
54 agenesis of corpus callosum HP:0001274
55 failure to thrive HP:0001508
56 umbilical hernia HP:0001537
57 omphalocele HP:0001539
58 laryngomalacia HP:0001601
59 atria septal defect HP:0001631
60 patent ductus arteriosus HP:0001643
61 frontal bossing HP:0002007
62 cerebral atrophy HP:0002059
63 pulmonary hypertension HP:0002092
64 recurrent aspiration pneumonia HP:0002100
65 scoliosis HP:0002650
66 obstructive sleep apnea HP:0002870
67 slender long bone HP:0003100
68 short nose HP:0003196
69 hypoplasia of the odontoid process HP:0003311
70 atlantoaxial dislocation HP:0003414
71 short mandibular rami HP:0003778
72 decreased body weight HP:0004325
73 depressed nasal bridge HP:0005280
74 accelerated skeletal maturation HP:0005616
75 distal widening of metacarpals HP:0006048
76 large sternal ossification centers HP:0006642
77 macrogyria HP:0007227
78 bullet-shaped middle phalanges of the hand HP:0009845
79 short distal phalanx of finger HP:0009882
80 prominence of the premaxilla HP:0010759
81 prominent forehead HP:0011220
82 midface retrusion HP:0011800
83 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 Syndrome25 23 NFIX

Anatomical Context for Marshall-Smith Syndrome

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MalaCards organs/tissues related to Marshall-Smith Syndrome:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1LRP2, NFIC, NFIX, SOX3
2MP:00030128.0CACNA1A, LRP2, NSD1, OPTN, SOX3
3MP:00053867.6CACNA1A, LRP2, NFIC, NFIX, SIL1, SOX3
4MP:00107686.0CACNA1A, 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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1NFIXNM_002501.3(NFIX): c.1080_1096del17 (p.Ser361Ilefs)deletionPathogenicrs797045737GRCh38Chr 19, 13081681: 13081697
2NFIXNM_002501.3(NFIX): c.970_971delAA (p.Lys324Glufs)deletionPathogenicrs797045738GRCh38Chr 19, 13078627: 13078628
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> Asingle nucleotide variantPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486
11NFIXNM_002501.3(NFIX): c.955+1G> Tsingle nucleotide variantPathogenicrs398122876GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet