chromosome 22q11.2 microduplication syndrome
MeSH: C567224ORPHA: 1727
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 chromosome 22q11.2 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
HydronephrosisCleft palateMicrocephalyNarrow faceEpicanthusHypertelorismSmooth philtrumMicrognathiaHigh foreheadHearing impairmentWide noseDepressed nasal ridgeDownslanted palpebral fissuresPtosisAbnormality of the pharynxAutismCompulsive behaviorsMotor stereotypyAnxietyDelayed speech and language developmentIntellectual disabilitySeizureHypotoniaGlobal developmental delayGrowth delayHypernasal speechVentricular septal defectTetralogy of FallotTransposition of the great arteriesAbnormal speech patternScoliosisHypoplastic left ventricleAttention deficit hyperactivity disorderUrethral stenosisAnterior creases of earlobeAplasia/Hypoplasia of the thymusAbnormality of immune system physiologyInterrupted aortic archMidface retrusionDisplacement of the urethral meatus
Classification & Codes
MeSH Code
C567224Orphanet Code
ORPHA:1727chromosome 22q11.2 microduplication syndrome
| MeSH | C567224 |
| Orphanet | ORPHA:1727 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO