17q11 microdeletion syndrome

ORPHA: 97685

Contents

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

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 17q11 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Reduced social responsivenessShort attention spanFrecklingMultiple cafe-au-lait spotsAbnormality of the faceProgressive visual lossAtypical behaviorHypertensionThickened skinSpecific learning disabilityAbnormal heart morphologyAbnormal facial shapeMigraineHeadacheMemory impairmentSleep disturbanceLanguage impairmentBeaking of vertebral bodies T12-L3Plexiform neurofibromaLisch nodulesAbnormal central motor functionNevus anemicusTelangiectasia of the skinPapuleBrain imaging abnormalityBroad foreheadStrabismusDeeply set eyeGlaucomaProptosisAbnormal choroid morphologyBlindnessAutistic behaviorDelayed pubertyAbnormality of the vertebral columnThickened cortex of long bonesOsteopeniaOsteoporosisHypermelanotic maculeLarge handsIntellectual disabilitySeizureGlobal developmental delayPolyneuropathyStrokeIntrauterine growth retardationHypertrophic cardiomyopathyPulmonic stenosisCoarctation of aortaLong footRenal artery stenosisAbnormal lung morphologyPulmonary arterial hypertensionScoliosisOsteolysisKyphosisElevated circulating parathyroid hormone levelShort statureDilatation of the cerebral arteryRecurrent subcortical infarctsFocal-onset seizureAtypical neurofibromatosisRetinal neovascularizationGliomaOptic nerve gliomaCerebellar gliomaBrainstem gliomaCerebral artery stenosisLeukemiaPheochromocytomaRhabdomyosarcomaMyelodysplasiaBowing of the legsGlomus jugular tumorBreast carcinomaDepressed nasal bridgeWide intermamillary distanceDiaphyseal dysplasiaGastrointestinal stroma tumorDural ectasiaPainBrain neoplasmMultiple mucosal neuromasNarrowing of medullary canalSchwannomaNeurofibrosarcomaRenovascular hypertensionAbnormality of the sphenoid sinusAbnormal internal carotid artery morphologyHypertelorismLow-set earsWebbed neckDownslanted palpebral fissuresPrecocious puberty

Classification & Codes

Orphanet Code

ORPHA:97685

17q11 microdeletion syndrome

Orphanet	`ORPHA:97685`
Treatments	0 drug(s)
Symptoms on record	94 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO