Emanuel syndrome

MeSH: C535733ORPHA: 96170

Contents

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

Overview

medical condition

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 Emanuel syndrome, sourced from HPO and Orphanet clinical annotations.

Global developmental delayCryptorchidismMicropenisHypogonadismHigh palateLong philtrumMicrognathiaHearing impairmentLow-set earsPreauricular skin tagMacrotiaRecurrent otitis mediaStrabismusDeeply set eyeMyopiaUpslanted palpebral fissureDental crowdingDelayed eruption of teethTooth malpositionDelayed speech and language developmentInfertilitySingle umbilical arteryIntellectual disabilitySeizureGeneralized hypotoniaCongenital hip dislocationFailure to thriveGrowth delayPulmonic stenosisAortic valve stenosisTruncus arteriosusDysphagiaConstipationGastroesophageal refluxCerebral atrophyRecurrent respiratory infectionsLow-set nipplesScoliosisRecurrent infectionsKyphoscoliosisEctopic anusPreauricular pitSupernumerary ribsLow hanging columellaFeeding difficultiesBroad jawHooded eyelidInguinal herniaRenal hypoplasiaUnilateral renal agenesisCleft palateBifid uvulaHydrocephalusMicrocephalyAstigmatismPtosisHypermetropiaCongenital diaphragmatic herniaSacral dimpleAgenesis of corpus callosumDandy-Walker malformationIntrauterine growth retardationDecreased fetal movementOligohydramniosPremature birthBreech presentationVentricular septal defectAtrial septal defectPatent ductus arteriosusAnal atresiaVentriculomegalyChiari malformationAbnormal cerebral white matter morphologyMultiple joint contracturesAbnormality of the ankleRecurrent candida infectionsRedundant neck skinSubmucous cleft lipSevere hearing impairmentCough

Classification & Codes

MeSH Code

C535733

Orphanet Code

ORPHA:96170

Emanuel syndrome

MeSH	`C535733`
Orphanet	`ORPHA:96170`
Treatments	0 drug(s)
Symptoms on record	80 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO