Williams Beuren syndrome (WBS)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Williams Beuren syndrome (WBS). This is caused by a deletion in chromosome 7q. Fully referenced neurology checklist.

Genetics and pathology

  • This is caused by a deletion in chromosome 7q
  • It is probably related to elastin deficiency

Seizure types

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Dysmorphic features

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Developmental features

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Endocrine abnormalities

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Renal abnormalities

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Cardiac abnormalities

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Other abnormalities

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Synonyms

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References

  1. Nicita F, Garone G, Spalice A, et al. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. Am J Med Genet A 2016; 170A:148-155. 
  2. Fusco C, Micale L, Augello B, et al. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Eur J Hum Genet 2014; 22:64-70. 
  3. Ferreira SB, Viana MM, Maia NG, et al. Oral findings in Williams-Beuren syndrome. Med Oral Patol Oral Cir Bucal 2018; 23:e1-e6. 
  4. Heinz A, Huertas AC, Schräder CU, Pankau R, Gosch A, Schmelzer CE. Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level. Am J Med Genet A 2016; 170:1832-1842.
  5. Samanta D. Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. Acta Neurol Belg 2017; 117:359-362. 
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