8p inverted duplication/deletion syndrome
ORPHA: 96092
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 8p inverted duplication/deletion syndrome, sourced from HPO and Orphanet clinical annotations.
HypertoniaAbnormal facial shapeFrontal baldingSpastic tetraplegiaAbnormality of chromosome segregationFloppy infantSevere intellectual disabilityProminent foreheadSevere global developmental delayAbnormality of the urinary systemRound faceLong philtrumWide nasal bridgeAbnormality of the eyeAutismAutistic behaviorAgenesis of corpus callosumAbnormal heart morphologyClinodactyly of the 5th fingerPositional foot deformityAttention deficit hyperactivity disorderProgressive spastic paraplegiaImpulsivityLong fingersCryptorchidismMicropenisHydronephrosisRetrognathiaHypertelorismMicrognathiaPreauricular skin tagShort neckBlue scleraeSynophrysPrecocious pubertySeizureDandy-Walker malformationCerebellar hypoplasiaTetralogy of FallotDextrocardiaScoliosisHigh, narrow palateHip dislocationContractures of the large jointsAbnormality of dental eruptionSmall hypothenar eminenceAplasia/Hypoplasia of the gallbladderWide mouthEverted lower lip vermilionMacrotiaAnteverted naresDelayed speech and language developmentPectus excavatumIntellectual disabilityMild intellectual disabilityGlobal developmental delay
Classification & Codes
Orphanet Code
ORPHA:960928p inverted duplication/deletion syndrome
| Orphanet | ORPHA:96092 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO