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 intellectual disability. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.^[1]

Quick Facts Other names ...

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

Presentation

The syndrome is a rare clinical disorder.^[2]

Physical
- Overgrowth^[3]
- Accelerated skeletal maturation^[3]
- Dysmorphic facial features^[3]
  - Prominent eyes^[4]
  - Bluish sclerae^[4]
  - Coarse eyebrows^[4]
  - Upturned nose^[4]
Radiologic examination
- Accelerated osseous maturation^[4]
- Phalangeal abnormalities^[4]
- Tubular thinning of the long bones^[4]
- Skull abnormalities^[4]
Mental
- Often associated with intellectual disability (of variable degree)^[3]

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).^{[citation needed]}

Diagnosis

Clinical course
- Respiratory difficulties (like upper airway obstruction.^[6] (Note regarding clinical variability: respiratory difficulties might be absent.^[3])
- Pneumonia^[4]
- Failure to thrive^[4]
- Psychomotor retardation^[4]

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

Differential diagnosis

Marshall–Smith syndrome is not to be confused with:

Marshall syndrome
Malan syndrome^[5]
Weaver syndrome (WSS) ^{[citation needed]}

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.

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.
Adam, M., Hennekam, R.C.M., Butler, M.G., Raf, M., Keppen, L., Bull, M., Clericuzio, C., Burke, L., Guttacher, A., Ormond, K., & Hoyme, H.E. (2002). Marshall–Smith syndrome: An osteochondrodysplasia with connective tissue abnormalities. 23rd Annual David W. Smith Workshop on Malformations and Morphogenesis, August 7, Clemson, SC.
Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Guttmacher AE, Ormond KE and Hoyme HE: Marshall-Smith Syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. American Journal of Medical Genetics 137A:117–124, 2005.
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Shimura T, Utsumi Y, Fujikawa S, Nakamura H, Baba K (Jan 1979). "Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges". J. Pediatr. 94 (1): 93–5. doi:10.1016/S0022-3476(79)80366-2. PMID 758435.
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Butler, M.G. (2003). Marshall–Smith syndrome. In: The NORD Guide to Rare Disorders. (pp219–220) Lippincott, Williams & Wilkins, Philadelphia, PA.
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Charon A, Gillerot T, Van Maldergem L, Van Schaftingen MH, de Bont B, Koulischer L. The Marshall–Smith syndrome. Eur J Pediatr 1990; 150: 54–5.
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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.
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Tzu-Jou Wang (2002). Marshall–Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. Am J Med Genet Part A;112 (1):107-108.
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Seidahmed MZ, Rooney DE, Salih MA, et al. (Jul 1999). "Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome". American Journal of Medical Genetics. 85 (2): 185–8. doi:10.1002/(SICI)1096-8628(19990716)85:2<185::AID-AJMG16>3.0.CO;2-W. PMID 10406675.

External links

clinical synopsis at Online Mendelian Inheritance in Man (OMIM).

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