MCID: MRS004
MIFTS: 34

Marshall-Smith Syndrome malady

Rare diseases, Fetal diseases, Bone diseases categories
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Summaries for Marshall-Smith Syndrome

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NIH Rare Diseases:42 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 accelerated skeletal maturation - peculiar facies - failure to thrive, is related to laryngitis and osteochondrodysplasia, and has symptoms including frontal bossing/prominent forehead, proptosis/exophthalmos and micrognathia/retrognathia/micrognathism/retrognathism. 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.

Disease Ontology:8 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.

Description from OMIM:46 602535

Aliases & Classifications for Marshall-Smith Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Marshall-Smith Syndrome, Aliases & Descriptions:

Name: Marshall-Smith Syndrome 8 9 42 22 46 48 62
 
Accelerated Skeletal Maturation - Peculiar Facies - Failure to Thrive 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
marshall-smith syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050858
OMIM46 602535
MESH via Orphanet35 C536026
ICD10 via Orphanet26 Q87.3
UMLS via Orphanet63 C0265211

Related Diseases for Marshall-Smith Syndrome

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Diseases related to Marshall-Smith Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1laryngitis10.4
2osteochondrodysplasia10.3
3septo-optic dysplasia10.3

Symptoms for Marshall-Smith Syndrome

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Symptoms by clinical synopsis from OMIM:

602535

Clinical features from OMIM:

602535

Symptoms:

48 (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 85)
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 defect in the atrial septum 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 decreased body weight HP:0004325
76 depressed nasal bridge HP:0005280
77 accelerated skeletal maturation HP:0005616
78 distal widening of metacarpals HP:0006048
79 large sternal ossification centers HP:0006642
80 macrogyria HP:0007227
81 bullet-shaped middle phalanges of the hand HP:0009845
82 short distal phalanx of finger HP:0009882
83 premaxillary prominence HP:0010759
84 prominent forehead HP:0011220
85 midface retrusion HP:0011800

Drugs & Therapeutics for Marshall-Smith Syndrome

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Drug clinical trials:

Search ClinicalTrials for Marshall-Smith Syndrome

Search 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

Anatomical Context for Marshall-Smith Syndrome

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MalaCards organs/tissues related to Marshall-Smith Syndrome:

32
Bone, Skin, Cerebellum, Lung, Tongue, T cells

Animal Models for Marshall-Smith Syndrome or affiliated genes

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Publications for Marshall-Smith Syndrome

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Articles related to Marshall-Smith Syndrome:

(show all 37)
idTitleAuthorsYear
1
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
2
Neonatal Marshall-Smith syndrome. (24556605)
2014
3
Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome. (23943225)
2013
4
A pigmentary skin defect is a new finding in Marshall-Smith syndrome. (21739579)
2011
5
Anesthesia out of surgical area in a child with Marshall-Smith Syndrome. (21273971)
2011
6
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. (21790824)
2011
7
Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report. (20731866)
2010
8
Phenotype and natural history in Marshall-Smith syndrome. (20949508)
2010
9
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome. (20303330)
2010
10
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. (20673863)
2010
11
Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. (18627063)
2008
12
Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome. (18315650)
2008
13
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. (16531739)
2006
14
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. (16086394)
2005
15
Marshall Smith syndrome and pregnancy. (14766465)
2004
16
Marshall-Smith syndrome: Follow-up report of a four and a half year old male. (15054853)
2004
17
Long-term follow-up of Marshall-Smith syndrome: report of one case. (15624371)
2004
18
Osseous fragility in Marshall-Smith syndrome. (12749068)
2003
19
Long-term survival of a patient with Marshall-Smith syndrome. (12038204)
2002
20
Marshall-Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. (12239732)
2002
21
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome. (10406675)
1999
22
Marshall-Smith syndrome: case report of a newborn male and review of the literature. (10457856)
1999
23
Anaesthetic management of a child with Marshall-Smith syndrome. (9717599)
1998
24
Neonatal death in Marshall-Smith syndrome. (9555581)
1998
25
Difficult airway in a patient with Marshall-Smith syndrome. (9742541)
1998
26
Marshall-Smith syndrome: the expanding phenotype. (9350818)
1997
27
The Marshall-Smith syndrome: a review of the laryngeal complications. (9208244)
1997
28
Marshall-Smith syndrome: a distinct entity. (7883370)
1994
29
Long survival of a patient with Marshall-Smith syndrome without respiratory complications. (8230168)
1993
30
Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. Case report. (2072173)
1991
31
Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations. (1909446)
1991
32
The Marshall-Smith syndrome. (2079077)
1990
33
Marshall-Smith syndrome: further delineation. (3051433)
1988
34
Marshall-Smith syndrome: new aspects. (3205374)
1988
35
Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations. (6823423)
1983
36
Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges. (758435)
1979
37
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1NFIXNM_002501.3(NFIX): c.1011_1012delTC (p.Gln338Glyfs)deletionPathogenicrs398122869GRCh37Chr 19, 13189482: 13189483
2NFIXNM_002501.3(NFIX): c.1037dupT (p.Thr347Hisfs)duplicationPathogenicrs398122870GRCh37Chr 19, 13189508: 13189509
3NFIXNM_002501.3(NFIX): c.1008_1012delCTCTC (p.Ser337Glyfs)deletionPathogenicrs398122871GRCh37Chr 19, 13189479: 13189483
4NFIXNM_002501.3(NFIX): c.1049dupC (p.Leu351Alafs)duplicationPathogenicrs398122872GRCh37Chr 19, 13189519: 13189520
5NFIXNM_002501.3(NFIX): c.1243delG (p.Ala415Profs)deletionPathogenicrs398122873GRCh37Chr 19, 13192658: 13192658
6NFIXNM_002501.3(NFIX): c.994dupT (p.Cys332Leufs)duplicationPathogenicrs398122874GRCh37Chr 19, 13189465: 13189466
7NFIXNM_002501.3(NFIX): c.959dupC (p.Ala321Glyfs)duplicationPathogenicrs398122875GRCh37Chr 19, 13189430: 13189431
8NFIXNFIX: c.955+1G> Asingle nucleotide variantPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486
9NFIXNFIX: c.955+1G> Tsingle nucleotide variantPathogenicrs398122876GRCh37Chr 19, 13186486: 13186486

Expression for genes affiliated with Marshall-Smith Syndrome

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Expression patterns in normal tissues for genes affiliated with Marshall-Smith Syndrome

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

Pathways for genes affiliated with Marshall-Smith Syndrome

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Compounds for genes affiliated with Marshall-Smith Syndrome

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GO Terms for genes affiliated with Marshall-Smith Syndrome

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Products for genes affiliated with Marshall-Smith Syndrome

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  • Proteins
  • Lysates

Sources for Marshall-Smith Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet