Marshall–Smith syndrome

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 variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.[1]

Marshall-Smith syndrome
Other namesGreig's syndrome, Polysyndactyly cephalopolysyndactyly syndrome, Accelerated skeletal maturation, Marshall-Smith type, Marshall–Smith–Weaver syndrome

Presentation

The syndrome is a rare clinical disorder.[2]

Genotype

The first gene - NFIX - that could cause the syndrome has been identified.[5] This gene is located on the short arm of chromosome 19 (19p13.1).

Diagnosis

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

Differential diagnosis

Marshall–Smith syndrome is not to be confused with:

Terminology

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

References

  1. Online Mendelian Inheritance in Man (OMIM): Marshall-Smith syndrome - 602535
  2. Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
  3. Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G (Oct 1993). "Long survival of a patient with Marshall-Smith syndrome without respiratory complications". Journal of Medical Genetics. 30 (10): 877–9. doi:10.1136/jmg.30.10.877. PMC 1016575. PMID 8230168.
  4. 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. doi:10.1148/radiology.181.1.1909446. PMID 1909446.
  5. 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, 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". American Journal of Human Genetics. 87 (2): 189–198. doi:10.1016/j.ajhg.2010.07.001. PMC 2917711. PMID 20673863.
  6. Williams DK, Carlton DR, Green SH, Pearman K, Cole TR (Oct 1997). "Marshall-Smith syndrome: the expanding phenotype". Journal of Medical Genetics. 34 (10): 842–5. doi:10.1136/jmg.34.10.842. PMC 1051092. PMID 9350818.

Further reading

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