21q22.11q22.12 microdeletion syndrome
ORPHA: 261323
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 21q22.11q22.12 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
ThrombocytopeniaMicrocephalyCoarse facial featuresBulbous noseAtypical behaviorBrachydactylyIntellectual disabilitySeizureAbsent speechFailure to thrive in infancySmall nailAbnormal facial shapeShort statureSleep-wake cycle disturbanceFeeding difficulties in infancyPostnatal growth retardationSevere global developmental delayCamptodactylyClinodactylyThick lower lip vermilionThin upper lip vermilionRound faceHypertelorismSmooth philtrumLow-set earsRecurrent otitis mediaAnteverted naresStrabismusDownslanted palpebral fissuresDental crowdingHyperactivityDry skinSacral dimplePeriorbital hyperpigmentationAgenesis of corpus callosumAtrial septal defectAnemiaDroolingPoor speechHypoplastic nipplesDownturned corners of mouthDelayed skeletal maturationAcromesomeliaBruxismAlmond-shaped palpebral fissureNail dystrophyMicrotiaFloppy infantShort proximal phalanx of the 5th fingerShort proximal phalanx of the 2nd fingerCone-shaped epiphyses of the phalanges of the handMidface retrusionStereotypical body rockingThick vermilion borderShort palpebral fissureInappropriate cryingScaphocephalyTongue thrustingSelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:26132321q22.11q22.12 microdeletion syndrome
| Orphanet | ORPHA:261323 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO