distal trisomy 17q
MeSH: C536579ORPHA: 3379
Overview
human disease
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 distal trisomy 17q, sourced from HPO and Orphanet clinical annotations.
Global developmental delaySevere intellectual disabilityCryptorchidismVesicoureteral refluxWide mouthCleft palateHigh palateThin upper lip vermilionMicrocephalyEpicanthusHypertelorismShort philtrumMicrognathiaBlepharophimosisPectus carinatumHand polydactylyPes cavusHallux valgusShort columellaFrontal bossingLow posterior hairlineEpisodic vomitingGenu valgumSevere short statureShort statureDepressed nasal bridgeRhizomeliaAbnormal temporal bone morphologyRenal duplicationProtruding earHyperactivityArachnodactylySeizureCerebellar hypoplasiaAbnormal heart morphologyAccessory spleenOverlapping toeScoliosisAbducens palsyBilateral sensorineural hearing impairmentJoint hypermobilityPosteriorly rotated ears
Classification & Codes
MeSH Code
C536579Orphanet Code
ORPHA:3379distal trisomy 17q
| MeSH | C536579 |
| Orphanet | ORPHA:3379 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO