20q11.2 microduplication syndrome
ORPHA: 363659
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 20q11.2 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismBifid scrotumGingival overgrowthMicrocephalyRetrognathiaCoarse facial featuresEpicanthusFull cheeksPosteriorly rotated earsWide nasal bridgeProptosisDelayed speech and language developmentGlobal developmental delayGrowth delayShort footModerate intellectual disabilityShort noseShort palmDepressed nasal bridgeProminent metopic ridgeMicrotiaUnderdeveloped supraorbital ridgesTented upper lip vermilionHigh myopiaTented philtrumFlat facePeriorbital edemaPalpebral edemaInguinal herniaMicropenisAbnormal oral frenulum morphologyTrigonocephalyBrachycephalyTriangular faceNarrow foreheadAbnormal nasal bridge morphologyAnteverted naresDownslanted palpebral fissuresPtosisNystagmusShort attention spanPectus excavatumPectus carinatumSacral dimpleSeizureLimited elbow extensionClinodactyly of the 5th fingerDeep palmar creaseSevere intrauterine growth retardationThickened earsSevere intellectual disabilityLingual dystoniaAbnormal shape of the palpebral fissure
Classification & Codes
Orphanet Code
ORPHA:36365920q11.2 microduplication syndrome
| Orphanet | ORPHA:363659 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO