chromosome 16p11.2 deletion syndrome
ORPHA: 261197
Overview
genetic disorder characterized by congenital minor physical anomalies and intellectual disability
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 chromosome 16p11.2 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorAutistic behaviorGlobal developmental delayMacrocephalyDelayed speech and language developmentIntellectual disabilityMild intellectual disabilityMotor delaySpecific learning disabilitySevere expressive language delayAttention deficit hyperactivity disorderSpeech articulation difficultiesModerate receptive language delayBrain imaging abnormalityHypertelorismBroad foreheadMicrognathiaConductive hearing impairmentSensorineural hearing impairmentAutismMotor stereotypySeizureChoreoathetosisDystoniaFailure to thriveObesityAbnormal heart morphologyAtrial septal defectAbnormal aortic valve morphologyAbnormal facial shapeGastroesophageal refluxVentriculomegalyEnlarged cisterna magnaScoliosisPlatybasiaAbnormal vertebral morphologyChiari type I malformationParoxysmal dyskinesiaSpeech apraxiaMidface retrusionFeeding difficultiesReduced social responsivenessArachnoid cystMulticystic kidney dysplasiaCleft palateCongenital diaphragmatic herniaRib fusionHand polydactylyCraniosynostosisDextrocardiaPyloric stenosisSyringomyelia
Classification & Codes
Orphanet Code
ORPHA:261197chromosome 16p11.2 deletion syndrome
| Orphanet | ORPHA:261197 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO