trisomy 8q
MeSH: C538020ORPHA: 1752
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 8q, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsEverted lower lip vermilionHypertelorismMicrognathiaHigh foreheadWide nasal bridgeShort neckUpslanted palpebral fissureGlobal developmental delaySpecific learning disabilityAbnormality of chromosome segregationDimple chinLong thoraxCryptorchidismCleft palateAbnormal oral frenulum morphologyHigh palateProtruding earJoint stiffnessHypoplasia of penisBifid tongueAbnormal cardiovascular system morphologyNon-midline cleft of the upper lipDisplacement of the urethral meatusOrofacial cleftBrachydactylyMyelomeningoceleDeep palmar creaseBone cystCamptodactyly of finger
Classification & Codes
MeSH Code
C538020Orphanet Code
ORPHA:1752trisomy 8q
| MeSH | C538020 |
| Orphanet | ORPHA:1752 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO