7q11.23 microduplication syndrome

MeSH: C565723ORPHA: 96121

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 7q11.23 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.

Reduced social responsivenessPosteriorly rotated earsAortic aneurysmDelayed speech and language developmentHigh palateThin upper lip vermilionBrachycephalyMacrocephalyDolichocephalyRetrognathiaShort philtrumBroad foreheadMicrognathiaAbnormal earlobe morphologyBroad nasal tipDeeply set eyeLong eyelashesDental malocclusionDiastemaAnxietyHyperactivityCongenital diaphragmatic herniaSingle transverse palmar creaseMild intellectual disabilityMotor delayGeneralized hypotoniaDysmetriaCerebellar hypoplasiaCraniosynostosisAbnormal facial shapeMorphological central nervous system abnormalityVentriculomegalyUnsteady gaitModerate intellectual disabilitySimplified gyral patternAbnormal columella morphologyChronic constipationInguinal herniaCryptorchidismShort lingual frenulumThin vermilion borderHypertelorismHigh foreheadChronic otitis mediaOverfolded helixEsotropiaAggressive behaviorMotor stereotypyAutism with high cognitive abilitiesCutis marmorataSeizureJoint hypermobilityGrowth delayObesityPatent ductus arteriosusMutismDroolingSleep disturbancePolyphagiaShort statureSparse anterior scalp hairLarge earlobeImpaired visuospatial constructive cognitionSevere intellectual disabilityHorizontal eyebrowAsymmetric crying faceHypospadiasUnilateral renal agenesisHydronephrosisHydrocephalusRound faceHearing impairmentShort neckAstigmatismStrabismusExotropiaPectus excavatumEnuresisCafe-au-lait spotSacral dimpleVentricular septal defectAtrial septal defectAortic valve stenosisPes planusTracheomalaciaHemivertebraeCubitus valgusImpaired smooth pursuitAplasia/Hypoplasia of the fallopian tubeAplasia/hypoplasia of the uterusAbnormal optic disc morphologyCollectionismNarrow palpebral fissureSelf-injurious behaviorLong fingers

Classification & Codes

MeSH Code

C565723

Orphanet Code

ORPHA:96121

7q11.23 microduplication syndrome

MeSH	`C565723`
Orphanet	`ORPHA:96121`
Treatments	0 drug(s)
Symptoms on record	95 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO