distal 22q11.2 microduplication syndrome
ORPHA: 261337
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 distal 22q11.2 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismUnilateral renal agenesisMacroglossiaHigh palateHydrocephalusMicrocephalyMacrocephalyCoarse facial featuresEpicanthusMandibular prognathiaHypertelorismSmooth philtrumShort philtrumTriangular faceBroad foreheadLong philtrumMicrognathiaLow-set earsProtruding earBulbous noseWide noseDepressed nasal ridgeWebbed neckStrabismusDeeply set eyeDownslanted palpebral fissuresUpslanted palpebral fissureOptic disc colobomaSacral dimpleTapered fingerIntellectual disabilitySeizureHypotoniaDysarthriaGlobal developmental delayDysphoniaVentricular septal defectPatent ductus arteriosusTricuspid valve prolapseToe syndactylyHypoplastic toenailsCamptodactyly of toeFrontal bossingAnal atresiaLow posterior hairlineLanguage impairmentScoliosisBiparietal narrowingTricuspid regurgitationAttention deficit hyperactivity disorderAbnormal antihelix morphologyBranchial fistulaAbnormal helix morphologyThick vermilion borderAbnormality of movementCamptodactyly of fingerPalpebral edema
Classification & Codes
Orphanet Code
ORPHA:261337distal 22q11.2 microduplication syndrome
| Orphanet | ORPHA:261337 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO