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Williams-Beuren Syndrome

Michele Roberts, MD, PhD Reviewed 06/2019
 


BASICS

DESCRIPTION

  • Williams-Beuren syndrome (WBS), a.k.a. Williams syndrome, is a multisystem neurodevelopmental disorder characterized by subtle, distinctive facial features and intellectual disabilit...

DIAGNOSIS

HISTORY

The signs and symptoms are diagnostic in classic WBS, but clinical presentation is variable: 
  • Prenatal growth deficiency

  • In very young children: mild growth retardation (occasionally, m...

TREATMENT

GENERAL MEASURES

  • The most recent American Academy of Pediatrics guidelines for health care supervision of children and adolescents specific to this syndrome 2001 (1)[C]

  • Generally needs lifelon...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Full activity unless cardiovascular stenoses are problematic 

Patient Monitoring

  • Annual health maintenance during childhood; increased monitoring, as needed

    • BP mea...

REFERENCES

1
Pober BR. Williams-Beuren syndrome. N Engl J Med.  2010;362(3):239–252. [View Abstract on OvidMedline]
2
Committee on Genetics. American Academy of Pediatrics: health care supervision f...

ADDITIONAL READING

  • Ghaffari M, Tahmasebi Birgani M, Kariminejad R, et al. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-B...

CODES

ICD10

Q89.8 Other specified congenital malformations 

ICD9

759.89 Other specified congenital anomalies 

SNOMED

63247009 Williams syndrome 

CLINICAL PEARLS

  • WBS is a multisystem neurodevelopmental disorder characterized by distinctive facial features and intellectual disabilities.

  • These include a characteristic cognitive behavioral profile ...

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