Beckwith-Wiedemann syndrome

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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. ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 130650
  2. ↑ URL: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/. Accessed on: 16 May 2011.
  3. ↑ URL: http://www.healthline.com/adamimage?contentId=1-001186&id=17254. Accessed on: 16 May 2011.
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