tetrasomy 18p
MeSH: C538306ORPHA: 3307
Overview
Presence of four copies of the short arm of chromosome 18
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 tetrasomy 18p, sourced from HPO and Orphanet clinical annotations.
MicrocephalyAbnormality of the faceLong philtrumAbnormality of neuronal migrationEpicanthusNarrow mouthThin vermilion borderFacial asymmetryDownslanted palpebral fissuresLarge handsIntellectual disabilitySeizureSyncopeGait disturbanceAchalasiaScoliosisShort nosePosteriorly rotated ears
Classification & Codes
MeSH Code
C538306Orphanet Code
ORPHA:3307tetrasomy 18p
| MeSH | C538306 |
| Orphanet | ORPHA:3307 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO