trisomy 8p
MeSH: C538019ORPHA: 264450
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 trisomy 8p, sourced from HPO and Orphanet clinical annotations.
CryptorchidismMicropenisNephrocalcinosisCleft palateBifid uvulaThin vermilion borderMicrocephalyRetrognathiaHypertelorismPosteriorly rotated earsPreauricular skin tagConductive hearing impairmentAnteverted naresShort neckAstigmatismStrabismusHypermetropiaUpslanted palpebral fissureBlue scleraeSingle transverse palmar creaseSacral dimpleHeterochromia iridisBrachydactylyAgenesis of corpus callosumGeneralized hypotoniaAnnular pancreasOverlapping toeClinodactyly of the 5th toeConstipationAbnormal lung lobationLow posterior hairlineRecurrent upper respiratory tract infectionsMultiple joint contracturesShort noseClinodactyly of the 5th fingerShort fourth metatarsalShort fifth metatarsalDepressed nasal bridgeMetopic suture patent to nasal rootHyperactive deep tendon reflexesAplasia/Hypoplasia of the tragusShort 1st metacarpalSevere intellectual disabilityFetal pyelectasisAplasia/Hypoplasia of the gallbladderClinodactyly of the 4th toeNeurodevelopmental delayHeart murmurClinodactyly of halluxClinodactyly of the 2nd fingerHydronephrosisHydrocephalusDecreased lacrimationSeizureDandy-Walker malformationTetralogy of FallotAbnormal left ventricle morphologyNeuroblastomaMalrotation of small bowelPeripheral pulmonary artery stenosisDysplastic aortic valveAbnormal middle ear morphologyAbnormal atrioventricular connection3-4 finger cutaneous syndactylyHernia
Classification & Codes
MeSH Code
C538019Orphanet Code
ORPHA:264450trisomy 8p
| MeSH | C538019 |
| Orphanet | ORPHA:264450 |
| Treatments | 0 drug(s) |
| Symptoms on record | 65 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO