Marshall–Smith syndrome
Marshall-Smith syndrome | |
---|---|
Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
OMIM | 602535 |
Patient UK | Marshall–Smith syndrome |
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 variability 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]
- Physical
- Radiologic examination
- Mental
- Often associated with mental retardation (of variable degree)[3]
Genotype
The first gene that could cause the syndrome is described recently[5] and is called NF1X (chromosome 19: 19p13.1).
Health and screening
- 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]
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]
- Marshall–Smith–Weaver syndrome
Related syndromes
Marshall–Smith syndrome is not to be confused with:
- Marshall syndrome (aka.Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome, see also: Periodic fever syndrome)
- Sotos (like) syndrome [5]
- Weaver-Smith syndrome (WSS) [3] (Dutch)
Research
- Lua error in package.lua at line 80: module 'strict' not found.
After the first discovery and description of Marshall–Smith syndrome in 1971, research to this rare syndrome has been carried out.
- 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.
- Lua error in package.lua at line 80: module 'strict' not found..
- Lua error in package.lua at line 80: module 'strict' not found.
- Baldellou Vazquez A, Ruiz-Echarri Zelaya MP, Loris Pablo C, Ferr#{225}ndez Longas A, Tamparillas Salvador M. El sIndrome de Marshall-Smith: a prop#{243}sito de una observad#{243}n personal. An Esp Pediatr 1983; 18:45-50.
- Butler, M.G. (2003). Marshall–Smith syndrome. In: The NORD Guide to Rare Disorders. (pp219–220) Lippincott, Williams & Wilkins, Philadelphia, PA.
- Lua error in package.lua at line 80: module 'strict' not found.
- 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.
- Lua error in package.lua at line 80: module 'strict' not found.
- Dernedde, G., Pendeville, P., Veyckemans, F., Verellen, G. & Gillerot, Y. (1998). Anaesthetic management of a child with Marshall–Smith syndrome. Canadian Journal of Anesthesia. 45 (7): 660. Anaesthetic management of a child with Marshall-Smith syndrome
- Lua error in package.lua at line 80: module 'strict' not found.
- Diab, M., Raff, M., Gunther, D.F. (2002). Osseous fragility in Marshall–Smith syndrome. Clinical Report: Osseous fragility in Marshall-Smith syndrome
- Ehresmann, T., Gillessen-Kaesbach G., Koenig R. (2005). Late diagnosis of Marshall Smith Syndrome (MSS). In: Medgen 17. [4]
- Lua error in package.lua at line 80: module 'strict' not found.
- Hassan M, Sutton T, Mage K, LimalJM, Rappaport R. The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations: (the so-called Marshall–Smith syndrome). Pediatr Radiol 1976; 5:53-57.
- Lua error in package.lua at line 80: module 'strict' not found.
- Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. Western Society for Pediatric Research, Carmel, California, February, 1987. Clin Res 35:68A, 1987.
- Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. David W. Smith Morphogenesis and Malformations Workshop. Greenville, SC, August, 1987. Proceedings of the Greenwood Genetics Center 7:152, 1988.
- Hoyme HE, Byers PH, Guttmacher AE: Marshall–Smith syndrome: Further evidence of an osteochondrodysplasia in long-term survivors. David W. Smith Morphogenesis and Malformations Workshop, Winston-Salem, NC, August, 1992. Proceedings of the Greenwood Genetic Center 12:70, 1993.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found..
- Lua error in package.lua at line 80: module 'strict' not found.
- 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. [5]
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) Marshall-Smith syndrome -602535
- ↑ 2.0 2.1 Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
- ↑ 3.0 3.1 3.2 3.3 3.4 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ 5.0 5.1 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
- Marshall Smith.org offers a multilingual platform serving parents, family circle, specialists, and presents past and upcoming research.
- Encyclopedia of Genetic Disorders
- clinical synopsis at Online Mendelian Inheritance in Man (OMIM).
- Case report: Difficult airway in a patient with Marshall-Smith syndrome