Beckwith-Wiedemann syndrome

MeSH: D001506ORPHA: 116

Contents

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

Overview

syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations

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 Beckwith-Wiedemann syndrome, sourced from HPO and Orphanet clinical annotations.

Tall statureLarge for gestational ageNeoplasmEnlarged kidneyNephropathyNephrocalcinosisWide mouthMacroglossiaProminent occiputCoarse facial featuresMandibular prognathiaAbnormal earlobe morphologyProptosisCongenital diaphragmatic herniaHyperinsulinemiaMelanocytic nevusNevus flammeusChorioretinal scalloped atrophyObesityHemihypertrophyUmbilical herniaOmphalocelePolyhydramniosRedundant skinPremature birthExocrine pancreatic insufficiencyHypoglycemiaNeonatal hypoglycemiaHypercalciuriaVisceromegalyPostauricular pitAccelerated skeletal maturationLarge placentaPosterior helix pitMultiple small medullary renal cystsAnterior creases of earlobeLong umbilical cordMidface retrusionSubchorionic septal cystLinear earlobe creaseAsymmetric growthInfra-orbital creaseInguinal herniaCryptorchidismUreteral duplicationVesicoureteral refluxGonadoblastomaCleft palateThin upper lip vermilionLarge fontanellesWide anterior fontanelFacial hemangiomaOtosclerosisNephrolithiasisHypothyroidismDiastasis rectiHypertrophic cardiomyopathyCardiomegalySplenomegalyPolycythemiaAbnormal speech patternDelayed gross motor developmentHepatomegalyNephroblastomaRhabdomyosarcomaHepatoblastomaNeuroblastomaProminent metopic ridgeMultiple renal cystsElevated circulating alpha-fetoprotein concentrationAdrenocortical carcinomaAdrenocortical cytomegalyCongenital megaureterFeeding difficulties in infancySleep apneaAbnormal pancreas morphologyNeurodevelopmental delayLarge intestinal polyposisAbnormal cardiovascular system morphologyLeiomyosarcomaUrogenital fistulaHearing impairmentPseudohypoparathyroidismChiari malformationAbnormal midface morphology

Classification & Codes

MeSH Code

D001506

Orphanet Code

ORPHA:116

Beckwith-Wiedemann syndrome

MeSH	`D001506`
Orphanet	`ORPHA:116`
Treatments	0 drug(s)
Symptoms on record	85 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO