MCID: MRS004
MIFTS: 26

Marshall-Smith Syndrome malady

Fetal diseases, Bone diseases categories

Summaries for Marshall-Smith Syndrome

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Marshall-Smith Syndrome, also known as accelerated skeletal maturation - peculiar facies - failure to thrive, is related to laryngitis and sotos syndrome, and has symptoms including stillbirth/neonatal death, mutiple fractures/bone fragility and osteoporosis/osteopenia/demineralisation/osteomalacia/rickets. An important gene associated with Marshall-Smith Syndrome is NFIX (nuclear factor I/X (CCAAT-binding transcription factor)). Affiliated tissues include bone, skin and tongue.

Description from OMIM:46 602535

Aliases & Classifications for Marshall-Smith Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

marshall-smith syndrome 42 22 46 48 60
accelerated skeletal maturation - peculiar facies - failure to thrive 48


External Ids:

OMIM46 602535
MESH via Orphanet35 C536026
ICD10 via Orphanet26 Q87.3
SNOMED-CT via Orphanet57 73284007
UMLS via Orphanet61 C0265211

Related Diseases for Marshall-Smith Syndrome

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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
1laryngitis10.4
2sotos syndrome10.2
3osteochondrodysplasia10.2

Clinical Features for Marshall-Smith Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

602535

Clinical synopsis from OMIM:

602535

Symptoms:

48 (show all 36)
  • stillbirth/neonatal death
  • mutiple fractures/bone fragility
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • laryngomalacia
  • hirsutism/hypertrichosis/increased body hair
  • ecchymoses
  • 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
  • scoliosis
  • conductive deafness/hearing loss
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hyperelastic skin/cutaneous hyperlaxity
  • thin skin
  • anteverted nares/nostrils
  • depressed nasal bridge
  • micrognathia/retrognathia/micrognathism/retrognathism
  • proptosis/exophthalmos
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • advanced bone age
  • mouth held open
  • short/small nose
  • blue sclerae
  • hypertelorism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hyperextensible joints/articular hyperlaxity
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • bowed diaphysis/diaphyses/long bones
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Marshall-Smith Syndrome

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Sources:
5CenterWatch, 41NIH 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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Marshall-Smith Syndrome:

32
Bone, Skin, Tongue, Lung, Cerebellum

Animal Models for Marshall-Smith Syndrome or affiliated genes

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Publications for Marshall-Smith Syndrome

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Genetic Variations for Marshall-Smith Syndrome

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Expression for genes affiliated with Marshall-Smith Syndrome

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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

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet