trisomy 18p
MeSH: C538307ORPHA: 1715
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 18p, sourced from HPO and Orphanet clinical annotations.
Thin vermilion borderSloping foreheadAbnormal pinna morphologyPreauricular skin tagUnderdeveloped nasal alaeWide nasal bridgeTelecanthusBlepharophimosisUpslanted palpebral fissureHypotelorismMild intellectual disabilityPyloric stenosisHighly arched eyebrowPolyphagiaAttention deficit hyperactivity disorderBilateral cryptorchidismMidface retrusionNarrow mouthAbnormal finger morphologyAbnormal foot morphologyMicrocephalyMicrognathiaNeonatal hypotoniaIntrauterine growth retardationHigh, narrow palateShort statureFacial palsyAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C538307Orphanet Code
ORPHA:1715trisomy 18p
| MeSH | C538307 |
| Orphanet | ORPHA:1715 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO