2q33.1 microdeletion syndrome
ORPHA: 251028
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 2q33.1 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Global developmental delayAbsent speechAbnormality of the dentitionCleft palateHigh palateMicrocephalyMicrognathiaHigh foreheadProminent nasal bridgeHypermetropiaAtypical behaviorAggressive behaviorHypotoniaBilateral talipes equinovarusAbnormal facial shapeDroolingSparse hairDecreased testicular sizeFeeding difficulties in infancySevere intellectual disabilityProminent foreheadSevere global developmental delayNasogastric tube feeding in infancyCryptorchidismMicropenisNarrow mouthPierre-Robin sequenceMacrocephalyNarrow faceLong faceShort philtrumFacial asymmetryLong philtrumAbnormality of the outer earLow-set earsConvex nasal ridgeWide noseShort neckAbnormality of the eyeDeeply set eyeDownslanted palpebral fissuresColobomaDacryocystitisDental crowdingDental malocclusionMicrodontiaRestlessnessEmotional labilitySelf-mutilationOsteopeniaSlender fingerSeizureHypertoniaVentricular septal defectTalipes equinovarusShort footFrontal bossingMorphological central nervous system abnormalityLower limb spasticityBroad-based gaitFine hairPolyphagiaIncreased susceptibility to fracturesGeneralized joint hypermobilityAbnormality of the kneeObstructive sleep apneaLumbar hyperlordosisTibial bowingShort noseExternal genital hypoplasiaAbnormal hip bone morphologyClinodactyly of the 5th fingerRelative macrocephalyFlat occiputAgenesis of permanent teethPostnatal growth retardationBroad halluxBroad thumbAbnormality of upper lip vermillionProminent calcaneusEsodeviationSmall hand
Classification & Codes
Orphanet Code
ORPHA:2510282q33.1 microdeletion syndrome
| Orphanet | ORPHA:251028 |
| Treatments | 0 drug(s) |
| Symptoms on record | 82 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO