8p23.1 microdeletion syndrome
MeSH: C537827ORPHA: 251071
Overview
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
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 8p23.1 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Mild intellectual disabilityGlobal developmental delayIntrauterine growth retardationCryptorchidismHypospadiasHigh palateMicrocephalyEpicanthusMicrognathiaHigh foreheadLow-set earsAbnormal pinna morphologyWide nasal bridgeShort neckAtypical behaviorTapered fingerSeizureGrowth delayAbnormal cardiac septum morphologyWeight lossPoor speechShort noseShort staturePulmonary artery stenosisBiparietal narrowingWide intermamillary distanceAtrioventricular canal defectAttention deficit hyperactivity disorderAbnormal cardiovascular system morphologyEnlarged thoraxThin vermilion borderFull cheeksProminent nasal bridgeStrabismusDeeply set eyeDownslanted palpebral fissuresUpslanted palpebral fissureCongenital diaphragmatic herniaObesityTetralogy of FallotHypertrophic cardiomyopathyPatent ductus arteriosusTransposition of the great arteriesAbnormal aortic morphologyPes planusHypoplastic left ventricleProximal placement of thumbBroad hallux phalanxBroad thumb
Classification & Codes
MeSH Code
C537827Orphanet Code
ORPHA:2510718p23.1 microdeletion syndrome
| MeSH | C537827 |
| Orphanet | ORPHA:251071 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO