Mowat-Wilson syndrome

MeSH: C536990ORPHA: 2152

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 Mowat-Wilson syndrome, sourced from HPO and Orphanet clinical annotations.

Reduced social responsivenessDelayed ability to walkHappy demeanorMulticystic kidney dysplasiaRenal duplicationVesicoureteral refluxAbnormality of the kidneyPelvic kidneyHydronephrosisGingival overgrowthConductive hearing impairmentAbnormality of the eyeRetinal colobomaAstigmatismCataractMyopiaMicrophthalmiaIris colobomaNystagmusDental crowdingDelayed eruption of teethWidely spaced teethTooth malpositionAnxietyAdducted thumbTapered fingerAtaxiaHypotoniaSpasticityCerebellar vermis hypoplasiaHypospadiasThick lower lip vermilionOpen mouthEverted lower lip vermilionMicrocephalyLong faceMandibular prognathiaPointed chinHypertelorismPosteriorly rotated earsRecurrent otitis mediaWide nasal bridgeDepressed nasal tipStrabismusDeeply set eyeTelecanthusMotor stereotypyPectus excavatumPectus carinatumSyndactylySeizureAgenesis of corpus callosumFlexion contractureGrowth delayAbnormal heart morphologyPatent ductus arteriosusAbnormal cardiac septum morphologyPes planusHallux valgusMorphological central nervous system abnormalityHypoplasia of the corpus callosumBroad-based gaitAganglionic megacolonModerate intellectual disabilitySleep disturbanceExpressive aphasiaBowel incontinenceScoliosisDelayed skeletal maturationGenu valgumShort statureDecreased body weightProminent nasal tipImpaired pain sensationUlnar deviation of the handLow hanging columellaUplifted earlobeBroad halluxLong toeBroad columellaEEG with generalized slow activityDelayed fine motor developmentSevere intellectual disabilityHorizontal eyebrowBroad eyebrowCamptodactylyNeurodevelopmental delayAxenfeld anomalyTetralogy of FallotPulmonic stenosisBicuspid aortic valveAortic valve stenosisCoarctation of aortaAspleniaCalcaneovalgus deformityVomitingConstipationPyloric stenosisVentriculomegalyPolymicrogyriaStatus epilepticusAgenesis of cerebellar vermisDevelopmental regressionAbnormal cerebral white matter morphologyInability to walkGastrointestinal dysmotilityRecurrent infectionsBruxismDecreased circulating immunoglobulin concentrationEnterocolitisAbnormal dental morphologyFocal white matter lesionsLarge basal gangliaPeriventricular heterotopiaAtypical absence seizureFocal-onset seizureEEG with spike-wave complexesEnlarged cerebellumAbnormal hippocampus morphologyDependency on intravenous nutritionFocal cortical dysplasiaHydrocele testisChordeeBifid scrotumMicropenisCleft palateBifid uvulaSensorineural hearing impairmentOligomenorrheaSeptate vaginaDysphagiaRecurrent fracturesTracheal stenosisPulmonary artery slingAnterior plagiocephalyWebbed penisCleft hard palateSubmucous cleft of soft and hard palateUrinary incontinenceCryptorchidism

Classification & Codes

MeSH Code

C536990

Orphanet Code

ORPHA:2152

Mowat-Wilson syndrome

MeSH	`C536990`
Orphanet	`ORPHA:2152`
Treatments	0 drug(s)
Symptoms on record	140 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO