Prader-Willi Syndrome

Shivajirao Patil, FAAFP, BC-ADM, MPH, MD and Aparna Thombare, MPH, MD Reviewed 05/2023

BASICS

Prader-Willi syndrome (PWS) is a genetic syndrome characterized by:

Severe hypotonia and poor feeding in early infancy followed by hyperphagia and obesity (unless eating is strictly ...

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...

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

Screen infants for strabismus.
Use of specialized growth charts for routine monitoring of height, weight, and BMI
Screen for T2DM if BMI is >95...

Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome. Genet Med. 2012;14(1):10–26. [View Abstract on OvidMedline]

...

Q87.1 Congenital malform syndromes predom assoc w short stature

89392001 Prader-Willi syndrome (disorder)

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 ...

START 10-DAY FREE TRIAL

Subscribe Now

Forgot password?