Difference between revisions of "Beckwith-Wiedemann syndrome"
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==Characteristics== | ==Characteristics== | ||
===Original=== | |||
Classic description:<ref name=omim130650>{{OMIM|130650}}</ref> | |||
*Exomphalos (omphalocele), macroglossia, and gigantism. | |||
Notes: | |||
*Memory device ''OMG'' = omphalocele, macroglossia, gigantism. | |||
===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 ''Worf'' from ''Star Trek The Next Generation''. | ||
| Line 7: | Line 15: | ||
*Associated with increased risk for: | *Associated with increased risk for: | ||
**[[Wilms tumour]]. | **[[Wilms tumour]]. | ||
Images: | Images: | ||
Revision as of 15:57, 17 May 2011
Beckwith-Wiedemann syndrome a congenital genetic disorder caused by changes in chromosome 11 (11p15.5).[1]
Characteristics
Original
Classic description:[1]
- Exomphalos (omphalocele), macroglossia, and gigantism.
Notes:
- Memory device OMG = omphalocele, macroglossia, gigantism.
More inclusive
Features:[2]
- Metopic ridge - like Worf from Star Trek The Next Generation.
- Omphalocele.
- Associated with increased risk for:
Images:
See also
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 130650
- ↑ URL: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/. Accessed on: 16 May 2011.
- ↑ URL: http://www.healthline.com/adamimage?contentId=1-001186&id=17254. Accessed on: 16 May 2011.