Difference between revisions of "Beckwith-Wiedemann syndrome"
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'''Beckwith-Wiedemann syndrome''' a congenital genetic disorder caused by changes in chromosome 11 (11p15.5).<ref name=omim130650>{{OMIM|130650}}</ref> | '''Beckwith-Wiedemann syndrome''', abbreviated '''BWS''', a congenital genetic disorder caused by changes in chromosome 11 (11p15.5).<ref name=omim130650>{{OMIM|130650}}</ref> | ||
==Characteristics== | ==Characteristics== | ||
===Original=== | ===Original=== | ||
Classic description:<ref name=omim130650>{{OMIM|130650}}</ref> | Classic description:<ref name=omim130650>{{OMIM|130650}}</ref> | ||
*Exomphalos (omphalocele) | *Exomphalos ([[omphalocele]]). | ||
*Macroglossia. | |||
*Gigantism. | |||
Notes: | Notes: | ||
*Memory device ''OMG'' = omphalocele, macroglossia, gigantism. | *Memory device ''OMG'' = omphalocele, macroglossia, gigantism. | ||
*Omphaloceles are usu. genetic;<ref>{{Cite journal | last1 = Frolov | first1 = P. | last2 = Alali | first2 = J. | last3 = Klein | first3 = MD. | title = Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature. | journal = Pediatr Surg Int | volume = 26 | issue = 12 | pages = 1135-48 | month = Dec | year = 2010 | doi = 10.1007/s00383-010-2701-7 | PMID = 20809116 }}</ref> another consideration is [[trisomy 18]]. | |||
===More inclusive=== | ===More inclusive=== | ||
Features:<ref>URL: [http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/ http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/]. Accessed on: 16 May 2011.</ref> | Features:<ref>URL: [http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/ http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/]. Accessed on: 16 May 2011.</ref> | ||
*Metopic ridge - like ''Worf'' from ''Star Trek The Next Generation''. | *Metopic ridge - like the Klingon ''Worf'' from ''Star Trek The Next Generation''. | ||
*Omphalocele. | *Omphalocele. | ||
*[[Renal medullary dysplasia]].<ref name=pmid17172498>{{Cite journal | last1 = Dotto | first1 = J. | last2 = Reyes-Múgica | first2 = M. | title = Renal medullary dysplasia is diagnostic of Beckwith-Wiedemann syndrome. | journal = Int J Surg Pathol | volume = 15 | issue = 1 | pages = 60-1 | month = Jan | year = 2007 | doi = 10.1177/1066896906295685 | PMID = 17172498 }}</ref> | |||
Associated with an increased risk for: | |||
*[ | *[[Wilms tumour]]. | ||
*[[Adrenocortical carcinoma]].<ref name=Ref_PBoD8_1157>{{Ref PBoD8|1157}}</ref> | |||
====Images==== | |||
*[http://www.healthline.com/images/adam/big/17254.jpg Metopic ridge (healthline.com)].<ref>URL: [http://www.healthline.com/adamimage?contentId=1-001186&id=17254 http://www.healthline.com/adamimage?contentId=1-001186&id=17254]. Accessed on: 16 May 2011.</ref> | *[http://www.healthline.com/images/adam/big/17254.jpg Metopic ridge (healthline.com)].<ref>URL: [http://www.healthline.com/adamimage?contentId=1-001186&id=17254 http://www.healthline.com/adamimage?contentId=1-001186&id=17254]. Accessed on: 16 May 2011.</ref> | ||
===Placenta=== | |||
*[[Placental villous immaturity]]. | |||
==See also== | ==See also== | ||
| Line 25: | Line 33: | ||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
<!--==External links== | |||
*[http://www.beckwith-wiedemannsyndrome.org/tp40/Default.asp?ID=28722 BWS foundation (beckwith-wiedemannsyndrome.org)]. | |||
--> | |||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Latest revision as of 12:40, 27 June 2017
Beckwith-Wiedemann syndrome, abbreviated BWS, a congenital genetic disorder caused by changes in chromosome 11 (11p15.5).[1]
Characteristics
Original
Classic description:[1]
- Exomphalos (omphalocele).
- Macroglossia.
- Gigantism.
Notes:
- Memory device OMG = omphalocele, macroglossia, gigantism.
- Omphaloceles are usu. genetic;[2] another consideration is trisomy 18.
More inclusive
Features:[3]
- Metopic ridge - like the Klingon Worf from Star Trek The Next Generation.
- Omphalocele.
- Renal medullary dysplasia.[4]
Associated with an increased risk for:
Images
Placenta
See also
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 130650
- ↑ Frolov, P.; Alali, J.; Klein, MD. (Dec 2010). "Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature.". Pediatr Surg Int 26 (12): 1135-48. doi:10.1007/s00383-010-2701-7. PMID 20809116.
- ↑ URL: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/. Accessed on: 16 May 2011.
- ↑ Dotto, J.; Reyes-Múgica, M. (Jan 2007). "Renal medullary dysplasia is diagnostic of Beckwith-Wiedemann syndrome.". Int J Surg Pathol 15 (1): 60-1. doi:10.1177/1066896906295685. PMID 17172498.
- ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1157. ISBN 978-1416031215.
- ↑ URL: http://www.healthline.com/adamimage?contentId=1-001186&id=17254. Accessed on: 16 May 2011.