Prader–Willi syndrome

MeSH: D011218ORPHA: 739

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

rare genetic disorder

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Prader–Willi syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal rapid eye movement sleepGastroparesisPolyphagiaScoliosisIncreased susceptibility to fracturesObstructive sleep apneaExternal genital hypoplasiaHypopigmentation of hairAccelerated skeletal maturationEnamel hypoplasiaBorderline intellectual disabilityAttention deficit hyperactivity disorderDecreased testicular sizeCentral sleep apneaImpaired temperature sensationSmall pituitary glandPerisylvian polymicrogyriaAbdominal obesityDecreased circulating gonadotropin concentrationReduced circulating growth hormone concentrationSmall handBrain imaging abnormalityXerostomiaNarrow nasal bridgePsychosisAutistic behaviorHypertensionSeizureExcessive daytime somnolenceStrokeHip dysplasiaVomitingGastroesophageal refluxModerate intellectual disabilityAbnormal cerebral white matter morphologyDownturned corners of mouthType II diabetes mellitusAlmond-shaped palpebral fissurePituitary hypothyroidismNasogastric tube feeding in infancyAdrenocorticotropic hormone deficiencyCentral hypothyroidismSkin-pickingPremature pubarchePremature adrenarcheDecreased circulating inhibin B concentrationPrecocious pubertyCentral adrenal insufficiencyCryptorchidismAnxietyInfertilityHypotoniaMotor delayGrowth delayDysphagiaShort statureFeeding difficulties in infancyAbnormal temper tantrumsSmall scrotumHypoplastic labia majoraClitoral hypoplasiaHypoplastic labia minoraHypogonadismAbnormality of the dentitionStrabismusHypermetropiaMyopiaDental crowdingPeriodontitisAtypical behaviorDelayed speech and language developmentPrimary amenorrheaDelayed pubertyDecreased response to growth hormone stimulation testOsteopeniaOsteoporosisEdemaHypopigmentation of the skinErysipelasMild intellectual disabilityHyporeflexiaSpecific learning disabilityFailure to thriveDecreased fetal movementWeak cryShort footAbnormal facial shapePoor suckVentriculomegalyRecurrent respiratory infections

Classification & Codes

MeSH Code

D011218

Orphanet Code

ORPHA:739

Prader–Willi syndrome

MeSH	`D011218`
Orphanet	`ORPHA:739`
Treatments	0 drug(s)
Symptoms on record	90 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO