trisomy 5p
ORPHA: 1742
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 5p, sourced from HPO and Orphanet clinical annotations.
MacrocephalyDolichocephalyRound faceHypertelorismProtruding earPtosisObesityFrontal bossingVentriculomegalyDevelopmental regressionScoliosisAbnormality of chromosome segregationShort statureAbnormal metacarpal morphologyRenal hypoplasia/aplasiaHypoplasia of penisSevere intellectual disability
Classification & Codes
Orphanet Code
ORPHA:1742trisomy 5p
| Orphanet | ORPHA:1742 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO