Distal trisomy 5q
ORPHA: 96097
Overview
Distal duplication 5q. Telomeric duplication 5q. Trisomy 5qter
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 5q, sourced from HPO and Orphanet clinical annotations.
MicrocephalyShort statureCryptorchidismHypospadiasNarrow mouthThin vermilion borderEpicanthusHypertelorismLong philtrumMicrognathiaLow-set earsMacrotiaProminent nasal bridgeDownslanted palpebral fissuresCarious teethDelayed speech and language developmentBrachydactylyCraniosynostosisVentricular septal defectModerate intellectual disabilityHypoplasia of the radiusHypoplasia of the ulnaShort noseFlat faceHerniaChorioretinal colobomaEczematoid dermatitisDextrocardiaAbsent thumbAplasia/Hypoplasia of the gallbladder
Classification & Codes
Orphanet Code
ORPHA:96097Distal trisomy 5q
| Orphanet | ORPHA:96097 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO