Williams-Beuren syndrome

ICD-10: Q93.8MeSH: D018980ORPHA: 904

Contents

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

Overview

neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression

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 Williams-Beuren syndrome, sourced from HPO and Orphanet clinical annotations.

Recurrent urinary tract infectionsAbnormality of the bladderBladder diverticulumInguinal herniaFunctional abnormality of male internal genitaliaCryptorchidismHypogonadotropic hypogonadismRenal duplicationVesicoureteral refluxRenal insufficiencyRenal hypoplasiaProteinuriaNephrocalcinosisPelvic kidneyPolycystic ovariesWide mouthMacroglossiaThick lower lip vermilionGingival overgrowthEverted lower lip vermilionMicrocephalyNarrow faceCoarse facial featuresEpicanthusPointed chinBroad foreheadLong philtrumMicrognathiaHigh foreheadChronic otitis mediaMacrotiaSensorineural hearing impairmentProtruding earWide nasal bridgeAbnormality of the neckMegalocorneaStrabismusGlaucomaVisual impairmentCataractMyopiaBlepharophimosisPosterior embryotoxonLacrimation abnormalityBlue iridesHypodontiaCarious teethAbnormal dental enamel morphologyDental malocclusionMicrodontiaDepressionAutismCompulsive behaviorsAnxietyPectus excavatumNephrolithiasisHypothyroidismHypertensionPrecocious pubertyOsteopeniaOsteoporosisSacral dimpleNevus flammeusCholelithiasisRetinal arteriolar tortuosityAdducted thumbAbnormal fingernail morphologyIntellectual disabilityAtaxiaHypotoniaSpasticityDysarthriaGait disturbanceStrokeDysmetriaTremorHyperreflexiaNystagmus-induced head noddingJoint stiffnessObesityFailure to thrive in infancyUmbilical herniaRedundant skinAbnormality of the voiceHoarse voiceDysphoniaAbnormality of the cardiovascular systemVentricular septal defectAtrial septal defectMitral valve prolapseCongestive heart failureTetralogy of FallotHypertrophic cardiomyopathyCardiomegalyPulmonic stenosisPatent ductus arteriosusSudden cardiac deathBicuspid aortic valveMitral regurgitationMyocardial infarctionAbnormal cardiac septum morphologyPes planusHypoplastic toenailsHallux valgusAbnormal tubulointerstitial morphologyNausea and vomitingConstipationGastroesophageal refluxMalabsorptionAbdominal painRectal prolapseAbnormality of extrapyramidal motor functionCerebral cortical atrophyGait imbalanceHypercalciuriaAbnormal speech patternPhonophobiaRecurrent respiratory infectionsColonic diverticulaChiari malformationDevelopmental regressionTracheoesophageal fistulaOverriding aortaCerebral ischemiaAbnormal pelvic girdle bone morphologyScoliosisDelayed skeletal maturationKyphosisArthralgiaGenu valgumRadioulnar synostosisPatellar dislocationAbnormality of the ankleHypercalcemiaAbnormal circulating lipid concentrationShort noseMyopathyElevated circulating creatine kinase concentrationSpina bifida occultaHyperlordosisAbnormal form of the vertebral bodiesVertebral segmentation defectClinodactyly of the 5th fingerAbnormal gastric mucosa morphologyInvoluntary movementsAbnormal endocardium morphologyShort statureSupravalvular aortic stenosisPeptic ulcerElfin faciesPeripheral pulmonary artery stenosisAortic arch aneurysmAbnormal carotid artery morphologyMultiple renal cystsType II diabetes mellitusAbnormal dental morphologyAttention deficit hyperactivity disorderAtrophy/Degeneration involving the corticospinal tractsAbnormal dermatoglyphicsPrematurely aged appearanceFlat corneaCorneal opacityAplasia/Hypoplasia of the irisHigh hypermetropiaUrethral stenosisHypoplasia of penisDysgraphiaAbnormal diencephalon morphologyHypoplasia of the zygomatic boneHyperacusisOpen biteIncreased nuchal translucencyIncreased bone mineral densityAbnormal social behaviorAbnormal nervous system morphologyOverfriendlinessSynostosis of jointsPeriorbital edemaArterial stenosisAbnormal cerebral vascular morphologyInsomniaRenovascular hypertensionDown-sloping shouldersJoint hypermobilityPosteriorly rotated ears

Classification & Codes

ICD-10 Code

Q93.8

MeSH Code

D018980

Orphanet Code

ORPHA:904

Williams-Beuren syndrome

ICD-10	`Q93.8`
MeSH	`D018980`
Orphanet	`ORPHA:904`
Treatments	0 drug(s)
Symptoms on record	185 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO