22q11 deletion syndrome

MeSH: D058165ORPHA: 567

Contents

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

Overview

chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features

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 22q11 deletion syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityAbnormal T cell physiologyCleft palateEpicanthusLow-set earsConductive hearing impairmentBulbous noseProminent nasal bridgeWide nasal bridgeTelecanthusUpslanted palpebral fissureAbnormality of the pharynxHypoplasia of the thymusHypotoniaHypernasal speechVentricular septal defectAtrial septal defectTetralogy of FallotAbnormal pulmonary valve morphologyTruncus arteriosusAbnormal facial shapeAphasiaPlatybasiaImmunodeficiencyAbnormal aortic arch morphologyAbnormal cardiovascular system morphologyRenal hypoplasiaAbnormality of the dentitionMalar flatteningLong faceLong philtrumHearing impairmentSmall earlobeChronic otitis mediaOverfolded helixShort neckAbnormal eyelid morphologyPtosisPosterior embryotoxonCarious teethAnxietyHypoparathyroidismAbnormal skull morphologySeborrheic dermatitisAcneArachnodactylyMild intellectual disabilityGlobal developmental delayTetanySpecific learning disabilityConstipationMeningoceleScoliosisHypocalcemiaMyalgiaShort statureAttention deficit hyperactivity disorderCorneal neovascularizationAnorectal anomalyAbnormality of the tonsilsInguinal herniaCryptorchidismHypospadiasVesicoureteral refluxPolycystic kidney dysplasiaAbnormality of the uterusNarrow mouthHydrocephalusMicrocephalyTurricephalyHypertelorismShort philtrumMicrognathiaChoanal atresiaStrabismusDownslanted palpebral fissuresGlaucomaCataractMicrophthalmiaOptic atrophyAbnormal dental enamel morphologyAtypical behaviorDepressionAutismAbnormal thorax morphologyHypothyroidismHyperthyroidismPurpuraHypopigmented skin patchesCholelithiasisRetinal arteriolar tortuosityHand polydactylyIntellectual disabilitySeizureParkinsonismArthritisFailure to thriveIntrauterine growth retardationObesityUmbilical herniaPolyhydramniosLaryngomalaciaPatent ductus arteriosusAbnormal aortic valve morphologySplenomegalyTalipes equinovarusFoot polydactylyAbnormality of thrombocytesThrombocytopeniaGastroesophageal refluxAnal atresiaAsthmaAbnormal lung lobationArrhinencephalyGastrointestinal hemorrhageAganglionic megacolonSpina bifidaIntestinal malrotationBowel incontinenceVaricose veinsAutoimmunityPatellar dislocationMultiple renal cystsChronic pulmonary obstructionBipolar affective disorderFeeding difficulties in infancyMultiple suture craniosynostosisTricuspid atresiaHypertensive crisisAtelectasisSchizophrenia

Classification & Codes

MeSH Code

D058165

Orphanet Code

ORPHA:567

22q11 deletion syndrome

MeSH	`D058165`
Orphanet	`ORPHA:567`
Treatments	0 drug(s)
Symptoms on record	131 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO