Mowat-Wilson syndrome due to monosomy 2q22
ORPHA: 261537
Overview
human disease
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 due to monosomy 2q22, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityAbsent speechAbnormal facial shapeExpressive language delayHappy demeanorUrinary incontinenceCryptorchidismHypospadiasAbnormality of the genitourinary systemThick lower lip vermilionOpen mouthMandibular prognathiaPointed chinShort philtrumPosteriorly rotated earsRecurrent otitis mediaWide nasal bridgeDepressed nasal tipConvex nasal ridgeDeeply set eyeTelecanthusMotor stereotypySeizureSpasticityAbnormal corpus callosum morphologyAgenesis of corpus callosumFailure to thriveAbnormal heart morphologyHypoplasia of the corpus callosumBroad-based gaitAganglionic megacolonEEG abnormalitySleep disturbanceBowel incontinenceShort statureSecondary microcephalyLateral ventricle dilatationPoor fine motor coordinationAtypical absence seizureFocal-onset seizureFloppy infantLow hanging columellaUplifted earlobeBroad eyebrowAbnormal hippocampus morphologyDelayed ability to walkMulticystic kidney dysplasiaRenal duplicationVesicoureteral refluxPelvic kidneyHydronephrosisGingival overgrowthHypertelorismRetinal colobomaAstigmatismStrabismusPtosisCataractMyopiaMicrophthalmiaIris colobomaDental crowdingDelayed eruption of teethTooth malpositionPectus excavatumPectus carinatumAbnormal posterior cranial fossa morphologySyndactylyArachnodactylyAdducted thumbFlexion contractureAxenfeld anomalyTetralogy of FallotAbnormal pulmonary valve morphologyPulmonic stenosisBicuspid aortic valveAortic valve stenosisCoarctation of aortaAspleniaPes planusHallux valgusLong halluxCalcaneovalgus deformityConstipationPyloric stenosisInability to walkEpisodic vomitingScoliosisRecurrent infectionsDelayed skeletal maturationGenu valgumBruxismDecreased circulating immunoglobulin concentrationAbnormality of the pulmonary arteryAbnormal dental morphologyLarge basal gangliaImpaired pain sensationUlnar deviation of the handBroad halluxLong toePrimary microcephalyCamptodactylyCerebral white matter hypoplasiaFocal hypointensity of cerebral white matter on MRIHydrocele testisChordeeBifid scrotumMicropenisCleft palateBifid uvulaSensorineural hearing impairmentSeptate vaginaCerebellar vermis hypoplasiaCerebellar hypoplasiaDysphagiaPolymicrogyriaAgenesis of cerebellar vermisPoor speechTracheal stenosisPulmonary artery slingChiari type I malformationPeriventricular heterotopiaRight unicoronal synostosisEnlarged cerebellumWebbed penisCleft hard palateSubmucous cleft of soft and hard palate
Classification & Codes
Orphanet Code
ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22
| Orphanet | ORPHA:261537 |
| Treatments | 0 drug(s) |
| Symptoms on record | 127 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO