1p21.3 microdeletion syndrome
ORPHA: 293948
Overview
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).
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 1p21.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Wide mouthMacrocephalyFull cheeksMicrognathiaBroad nasal tipAstigmatismDeeply set eyeAbnormality of visionMyopiaUpslanted palpebral fissureAtypical behaviorAggressive behaviorAutistic behaviorSelf-mutilationDelayed speech and language developmentIntellectual disabilityMild intellectual disabilityGlobal developmental delayJoint hypermobilityObesityShort noseSelf-injurious behaviorAbnormal eating behaviorExcessive shynessLong ear
Classification & Codes
Orphanet Code
ORPHA:2939481p21.3 microdeletion syndrome
| Orphanet | ORPHA:293948 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO