MCID: MRS004
MIFTS: 34

Marshall-Smith Syndrome malady

Rare diseases, Fetal diseases, Bone diseases categories

Summaries for Marshall-Smith Syndrome

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Marshall-Smith Syndrome, also known as accelerated skeletal maturation - peculiar facies - failure to thrive, is related to laryngitis and osteochondrodysplasia, and has symptoms including proptosis/exophthalmos, choanal atresia and dilated cerebral ventricles without hydrocephaly. An important gene associated with Marshall-Smith Syndrome is NFIX (nuclear factor I/X (CCAAT-binding transcription factor)). Affiliated tissues include bone, skin and lung.

Disease Ontology:9 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.

Description from OMIM:48 602535

Aliases & Classifications for Marshall-Smith Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
marshall-smith syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

marshall-smith syndrome 9 10 44 23 48 50 63
accelerated skeletal maturation - peculiar facies - failure to thrive 50


External Ids:

Disease Ontology9 DOID:0050858
OMIM48 602535
MESH via Orphanet37 C536026
ICD10 via Orphanet27 Q87.3
SNOMED-CT via Orphanet60 73284007
UMLS via Orphanet64 C0265211

Related Diseases for Marshall-Smith Syndrome

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Sources:
18GeneCards, 19GeneDecks
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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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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

602535

Clinical features from OMIM:

602535

Symptoms:

50 (show all 36)
  • proptosis/exophthalmos
  • choanal atresia
  • dilated cerebral ventricles without hydrocephaly
  • stillbirth/neonatal death
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • mutiple fractures/bone fragility
  • mouth held open
  • conductive deafness/hearing loss
  • craniostenosis/craniosynostosis/sutural synostosis
  • blue sclerae
  • hyperelastic skin/cutaneous hyperlaxity
  • ecchymoses
  • advanced bone age
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • death in infancy
  • hyperextensible joints/articular hyperlaxity
  • thin skin
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • depressed nasal bridge
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • scoliosis
  • hypertelorism
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • thickened/hypertrophic/fibromatous gingivae
  • hirsutism/hypertrichosis/increased body hair
  • congenital cardiac anomaly/malformation/cardiopathy
  • micrognathia/retrognathia/micrognathism/retrognathism
  • laryngomalacia
  • anteverted nares/nostrils
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • short/small nose
  • bowed diaphysis/diaphyses/long bones
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Marshall-Smith Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Marshall-Smith Syndrome

Drug clinical trials:

Search ClinicalTrials for Marshall-Smith Syndrome

Search NIH Clinical Center for Marshall-Smith Syndrome

Search CenterWatch for Marshall-Smith Syndrome

Genetic Tests for Marshall-Smith Syndrome

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Sources:
23GTR
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Genetic tests related to Marshall-Smith Syndrome:

id Genetic test Affiliating Genes
1 Marshall-Smith Syndrome23

Anatomical Context for Marshall-Smith Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Marshall-Smith Syndrome:

34
Bone, Skin, Lung, Tongue, Cerebellum, T cells

Animal Models for Marshall-Smith Syndrome or affiliated genes

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Publications for Marshall-Smith Syndrome

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Sources:
53PubMed
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Articles related to Marshall-Smith Syndrome:

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

1
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Marshall-Smith Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet