Prader–Willi syndrome

Also known as: PWS

Imprinting disorder with neonatal hypotonia, hyperphagia, obesity and hypogonadism.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal onset
Gene(s) involved: MAGEL2, MKRN3, NDN, SNORD116, SNRPN

Etiology & mechanism

Loss of paternally expressed genes on 15q11.2-q13.

Gene(s) involved (5)

MAGEL2MKRN3NDNSNORD116SNRPN

Symptoms & signs (10)

almond-shaped eyesbehavioral problemshyperphagiahypogonadismintellectual disabilityneonatal hypotoniaobesitypoor feedingshort staturesleep apnea

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.