MCID: MRS004
MIFTS: 28

Marshall-Smith Syndrome malady

Fetal, Bone categories

Summaries for Marshall-Smith Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 sotos syndrome and conn's syndrome, 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 skin and t cells.

Description from OMIM:47 602535

Aliases & Classifications for Marshall-Smith Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
marshall-smith syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

marshall-smith syndrome 43 22 47 49 61
accelerated skeletal maturation - peculiar facies - failure to thrive 49


External Ids:

OMIM47 602535
MESH via Orphanet36 C536026
ICD10 via Orphanet26 Q87.3
SNOMED-CT via Orphanet58 73284007
UMLS via Orphanet62 C0265211

Related Diseases for Marshall-Smith Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Marshall-Smith Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1sotos syndrome10.2
2conn's syndrome10.2
3septo-optic dysplasia10.2

Clinical Features for Marshall-Smith Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

602535

Clinical synopsis from OMIM:

602535

Symptoms:

49 (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

Drugs & Therapeutics for Marshall-Smith Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Marshall-Smith Syndrome:

33
Skin, T cells

Animal Models for Marshall-Smith Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Marshall-Smith Syndrome

Sources:
51PubMed
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Articles related to Marshall-Smith Syndrome:

(show all 36)
idTitleAuthorsYear
1
Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome. (23943225)
2013
2
A pigmentary skin defect is a new finding in Marshall-Smith syndrome. (21739579)
2011
3
Anesthesia out of surgical area in a child with Marshall-Smith Syndrome. (21273971)
2011
4
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. (21790824)
2011
5
Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report. (20731866)
2010
6
Phenotype and natural history in Marshall-Smith syndrome. (20949508)
2010
7
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome. (20303330)
2010
8
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. (20673863)
2010
9
Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. (18627063)
2008
10
Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome. (18315650)
2008
11
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. (16531739)
2006
12
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. (16086394)
2005
13
Marshall Smith syndrome and pregnancy. (14766465)
2004
14
Marshall-Smith syndrome: Follow-up report of a four and a half year old male. (15054853)
2004
15
Long-term follow-up of Marshall-Smith syndrome: report of one case. (15624371)
2004
16
Osseous fragility in Marshall-Smith syndrome. (12749068)
2003
17
Long-term survival of a patient with Marshall-Smith syndrome. (12038204)
2002
18
Marshall-Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. (12239732)
2002
19
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome. (10406675)
1999
20
Marshall-Smith syndrome: case report of a newborn male and review of the literature. (10457856)
1999
21
Anaesthetic management of a child with Marshall-Smith syndrome. (9717599)
1998
22
Neonatal death in Marshall-Smith syndrome. (9555581)
1998
23
Difficult airway in a patient with Marshall-Smith syndrome. (9742541)
1998
24
Marshall-Smith syndrome: the expanding phenotype. (9350818)
1997
25
The Marshall-Smith syndrome: a review of the laryngeal complications. (9208244)
1997
26
Marshall-Smith syndrome: a distinct entity. (7883370)
1994
27
Long survival of a patient with Marshall-Smith syndrome without respiratory complications. (8230168)
1993
28
Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. Case report. (2072173)
1991
29
Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations. (1909446)
1991
30
The Marshall-Smith syndrome. (2079077)
1990
31
A case of Marshall-Smith or Weaver syndrome. (2593121)
1989
32
Marshall-Smith syndrome: further delineation. (3051433)
1988
33
Marshall-Smith syndrome: new aspects. (3205374)
1988
34
Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations. (6823423)
1983
35
Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges. (758435)
1979
36
The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations. (The so-called Marshall-Smith syndrome). (827733)
1976

Genetic Variations for Marshall-Smith Syndrome

Expression for genes affiliated with Marshall-Smith Syndrome

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Marshall-Smith Syndrome

GO Terms for genes affiliated with Marshall-Smith Syndrome

Products for genes affiliated with Marshall-Smith Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Marshall-Smith Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet