mosaic trisomy 8
MeSH: C537940ORPHA: 96061
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 mosaic trisomy 8, sourced from HPO and Orphanet clinical annotations.
Moderate intellectual disabilityVesicoureteral refluxHydronephrosisDolichocephalyLong faceHypertelorismMicrognathiaAbnormal pinna morphologyMacrotiaProtruding earWide noseBroad nasal tipAnteverted naresStrabismusDeeply set eyeAbnormal rib morphologyNarrow chestLimitation of joint mobilityDeep plantar creasesFrontal bossingScoliosisNarrow pelvis boneVertebral segmentation defectDeep palmar creasePatellar aplasiaCorneal opacityAbnormal antihelix morphologyCamptodactyly of fingerCryptorchidismTall statureCleft palateHigh palateHearing impairmentShort neckHypopigmentation of the skinHypopigmented skin patchesAgenesis of corpus callosumArthrogryposis multiplex congenitaClinodactyly of the 5th fingerShort statureDecreased testicular sizeAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C537940Orphanet Code
ORPHA:96061mosaic trisomy 8
| MeSH | C537940 |
| Orphanet | ORPHA:96061 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO