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.
  • 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 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. 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.
  3. URL: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/. Accessed on: 16 May 2011.
  4. URL: http://www.healthline.com/adamimage?contentId=1-001186&id=17254. Accessed on: 16 May 2011.