Marshall–Smith syndrome

Marshall-Smith syndrome
Classification and external resources
ICD-10 GroupMajor.minor
ICD-9 xxx
OMIM 602535

Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variabililty regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.[1]

Contents

Phenotype

The syndrome is a rare clinical disorder.[2]

Genotype

The first gene that could cause the syndrome is described recently[5] and is called NF1X (chromosome 19: 19p13.1).

Health and screening

Respiratory complications are often cause of death in early infancy.[2]

Alternate names

Translated

  • English: Marshall–Smith syndrome
  • Español: Síndrome de Marshall–Smith
  • Français: Le syndrome de Marshall–Smith
  • Italiano: Sindrome di Marshall–Smith
  • Nederlands: Marshall–Smithsyndroom, syndroom van Marshall–Smith
  • Polski: Zespół Marshalla–Smitha, Zespół Marshalla i Smitha
  • Русский: Синдром Маршалла–Смита

Synonyms

  • Greig's syndrome or Polysyndactyly cephalopolysyndactyly syndrome [1]
  • Accelerated skeletal maturation, Marshall-Smith type [2]

Related syndromes

Marshall–Smith syndrome is not to be confused with:

Research

  • Marshall RE, Graham CB, Scott CR, Smith DW (Jan 1971). "Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder". J Pediatr. 78 (1): 95–101. doi:10.1016/S0022-3476(71)80269-X. PMID 4321601. 

After the first discovery and description of Marshall–Smith syndrome in 1971, research to this rare syndrome has been carried out.

References

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) Marshall-Smith syndrome -602535
  2. ^ a b Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
  3. ^ a b c d e Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G (Oct 1993). "Long survival of a patient with Marshall-Smith syndrome without respiratory complications". J Med Genet. 30 (10): 877–9. doi:10.1136/jmg.30.10.877. PMC 1016575. PMID 8230168. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1016575. 
  4. ^ a b c d e f g h i j k Eich GF, Silver MM, Weksberg R, Daneman A, Costa T (Oct 1991). "Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations". Radiology 181 (1): 183–8. PMID 1909446. http://radiology.rsnajnls.org/cgi/pmidlookup?view=long&pmid=1909446. 
  5. ^ a b Malan V, Rajan D, Thomas S, Shaw AC, dit Picard HL, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Pušeljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, and Cormier-Daire V (July 2010). "Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome". The American Journal of Human Genetics 87 (2): 189–198. doi:10.1016/j.ajhg.2010.07.001. 
  6. ^ Williams DK, Carlton DR, Green SH, Pearman K, Cole TR (Oct 1997). "Marshall-Smith syndrome: the expanding phenotype". J Med Genet. 34 (10): 842–5. doi:10.1136/jmg.34.10.842. PMC 1051092. PMID 9350818. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1051092. 

External links


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