Prader-Willi Syndrome

Daniel R. Matta, MD and Gillian S. R. Richmond, MD, BSc Reviewed 06/2021

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 is the mainstay of treatment with the goal to increase independence and reduce morbidity.

Restricted access to food and maintaining daily routines
Diet a...

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

Gunay-Aygun M, Schwartz S, Heeger S, et al. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics....

ADDITIONAL READING

Butler MG, Lee J, Manzardo AM, et al. Growth charts for non-growth hormone treated Prader-Willi syndrome. Pediatrics. 2015;135(1):e126–e135. [Vie...

CODES

ICD10

Q87.1 Congenital malform syndromes predom assoc w short stature

SNOMED

89392001 Prader-Willi syndrome (disorder)

CLINICAL PEARLS

PWS is a rare genetic disorder caused by mutations on the paternal chromosome 15.
Characterized by hypotonia in early infancy followed by hyperphagia and behavior problems beginning in ...

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