Williams Beuren syndrome (WBS)

Genetics and pathology

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

Seizure types

Dysmorphic features

Developmental features

Endocrine abnormalities

Renal abnormalities

Cardiac abnormalities

Other abnormalities

Synonyms

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. 
6. And 5 more. Subscribe to see the full list

Related checklists

• Epilepsy and chromosomal disorders: classification
• Angelman syndrome
• Alfi syndrome
• Miller Dieker syndrome
• Patau syndrome
• Wolf-Hirschhorn syndrome
• 1p36 monosomy
• 1q deletion syndrome
• 2p deletion syndrome
• 2q deletion syndrome
• 3p deletion syndrome
• 6q terminal deletion syndrome
• 15 inversion duplication syndrome
• 15q13.3 microdeletion syndrome
• 18q deletion syndrome
• Fragile X syndrome
• Ring 14 chromosome
• Ring 20 chromosome
• Trisomy 12p