Patau syndrome
MeSH: D000073839ORPHA: 3378
Overview
human disease
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 Patau syndrome, sourced from HPO and Orphanet clinical annotations.
Median cleft upper lipCleft palateAbnormal cranial suture/fontanelle morphologyMalar flatteningLow-set earsCystic hygromaAnophthalmiaMicrophthalmiaHypotelorismPostaxial hand polydactylySeizureHypotoniaIntrauterine growth retardationVentricular septal defectAtrial septal defectPatent ductus arteriosusHydrops fetalisAbnormal speech patternAbnormal pelvic girdle bone morphologyBilateral single transverse palmar creasesSevere intellectual disabilitySevere global developmental delayAbnormal cardiovascular system morphologyCognitive impairmentAbnormal morphology of female internal genitaliaCryptorchidismAbnormality of the ureterHydronephrosisAbnormality of the dentitionLong philtrumAbnormality of the middle earPreauricular skin tagSensorineural hearing impairmentAbnormality of the eyeDeeply set eyeAbnormal eyelash morphologyAbnormality of visionCataractIris colobomaOptic atrophyAbnormal rib morphologyNarrow chestCalvarial skull defectAbnormal lung lobationChiari malformationScoliosisHigh, narrow palateKyphosisPreauricular pitCapillary hemangiomaMultiple renal cystsAbnormal dermatoglyphicsAbnormal retinal vascular morphologyAplasia/Hypoplasia of the irisAbnormal antihelix morphologyAbnormal helix morphologyEctrodactylyDisplacement of the urethral meatusHernia
Classification & Codes
MeSH Code
D000073839Orphanet Code
ORPHA:3378Patau syndrome
| MeSH | D000073839 |
| Orphanet | ORPHA:3378 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO