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Williams-Beuren Syndrome

Michele Roberts, MD, PhD Reviewed 06/2018
 


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

  • Generally needs lifelong supervision (1)...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Full activity unless cardiovascular stenoses are problematic 

Patient Monitoring

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

    • BP measu...

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

  • Collins RTII. Cardiovascular disease in Williams syndrome. Circulation.  2013;127(21):2125–2134.

  • Kozel BA, Danback JR, Waxler JL, et al. Williams syndrome predisposes to vascula...

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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