trisomy 16
MeSH: C538041ORPHA: 1708
Overview
partial or complete triplication of chromosome 16
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 16, sourced from HPO and Orphanet clinical annotations.
Intrauterine growth retardationSmall for gestational agePremature birthAbnormal heart morphologyHypospadiasHorseshoe kidneyAbnormality of the genitourinary systemDelayed speech and language developmentAbnormal thorax morphologySyndactylySingle umbilical arteryGlobal developmental delayVentricular septal defectAtrial septal defectPatent ductus arteriosusMorphological central nervous system abnormalityPulmonary hypoplasiaCraniofacial asymmetryLarge placentaAbnormality of the gastrointestinal tractGastrostomy tube feeding in infancyClinodactylyAsymmetric growthWide mouthHearing impairmentAbnormality of the noseSingle transverse palmar creaseSeizureAnteriorly placed anusCoarctation of aortaAbnormal lung morphologyMeckel diverticulumAbnormality of the cervical spineProfuse pigmented skin lesionsShort forearmShort thumbNasogastric tube feeding in infancySingle coronary artery originAbnormal eye morphologyAbnormal ear morphologyShort femoral neck
Classification & Codes
MeSH Code
C538041Orphanet Code
ORPHA:1708trisomy 16
| MeSH | C538041 |
| Orphanet | ORPHA:1708 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO