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Prader-Willi Syndrome

David E. Polzin, MD and Jason J. Hofstede, DO Reviewed 06/2019
 


BASICS

DESCRIPTION

Prader-Willi syndrome (PWS) is a genetic syndrome characterized by the following: 
  • Severe hypotonia and poor feeding in early infancy followed by hyperphagia and obesity (unless eatin...

DIAGNOSIS

HISTORY

  • Decreased fetal movement and SGA prevalent in PWS pregnancies. Breech positioning may be noted, and 3rd trimester ultrasound may show flexed wrists and dorsi-extended feet with flexed...

TREATMENT

GENERAL MEASURES

Behavior modification 
  • Restricted access to food and maintaining daily routines

  • Diet and exercise to prevent obesity and DM

  • Limit-setting for behavior problems

  • Social skills trai...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Screen infants for strabismus.

  • Use of specialized growth charts for routine monitoring of height, weight, and BMI

  • Screen for DM if BMI is >95th...

REFERENCES

1
Gunay-Aygun M, Schwartz S, Heeger S, et al. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics.  2001;108(5):E92. [Vi...

ADDITIONAL READING

  • Butler MG, Kimonis V, Dykens E, et al. Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: a review of natural history study. Am J Med Genet A.  2...

CODES

ICD10

Q87.1 Congenital malform syndromes predom assoc w short stature 

ICD9

759.81 Prader-Willi syndrome 

SNOMED

89392001 Prader-Willi syndrome (disorder) 

CLINICAL PEARLS

  • PWS is a rare genetic disorder caused by a deletion, UPD, or an imprinting center defect resulting in the absence of expression of a region of the paternal chromosome 15.

  • Characterized ...

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