3p25.3 microdeletion syndrome
ORPHA: 435638
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 3p25.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Motor delayAbnormality of the outer earProminent noseDownslanted palpebral fissuresMotor stereotypyDelayed speech and language developmentHypotoniaAbsent speechDeep philtrumDepressed nasal bridgeCleft palateThin upper lip vermilionBrachycephalyEpicanthusMandibular prognathiaShort philtrumNarrow foreheadMicrognathiaSensorineural hearing impairmentAnteverted naresMicrophthalmiaBlepharophimosisAutistic behaviorSacral dimpleTapered finger2-3 finger cutaneous syndactylyAtaxiaVentricular septal defectAtrial septal defectPulmonic stenosisPatent ductus arteriosusCoronary artery atherosclerosisOverlapping toePyloric stenosisBilateral tonic-clonic seizureGeneralized non-motor (absence) seizureGeneralized myoclonic seizureScoliosisHigh, narrow palateDownturned corners of mouthAcromesomeliaSkeletal muscle atrophyKnee flexion contractureCongenital pseudoarthrosis of the clavicleAttention deficit hyperactivity disorderProximal placement of thumbBroad halluxAbnormal thalamus morphologyBroad thumbCerebral white matter atrophyPostaxial polydactyly
Classification & Codes
Orphanet Code
ORPHA:4356383p25.3 microdeletion syndrome
| Orphanet | ORPHA:435638 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO