Marshall–Smith syndrome

Marshall-Smith syndrome
Classification and external resources
OMIM 602535
Orphanet 561

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]

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

Synonyms

Related syndromes

Marshall–Smith syndrome is not to be confused with:

Research

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. 1 2 Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
  3. 1 2 3 4 5 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. 1 2 3 4 5 6 7 8 9 10 11 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. 1 2 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". 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". Journal of Medical Genetics 34 (10): 842–5. doi:10.1136/jmg.34.10.842. PMC 1051092. PMID 9350818.

External links

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