triploid syndrome

MeSH: D057885ORPHA: 3376

Overview

extremely rare chromosomal disorder occuring during human embryogenesis, causing severe abnormalities in fetal development and usually lethal in the prenatal stage

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 triploid syndrome, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsIntrauterine growth retardationAbnormality of chromosome segregationDecreased skull ossificationHypoplasia of penisMacroglossiaCleft palateMicrognathiaCataractIris colobomaNarrow chestOmphalocelePolyhydramniosHepatomegalyFinger syndactylyAplasia/Hypoplasia affecting the eyeNon-midline cleft of the upper lipAmbiguous genitaliaNarrow mouthHydrocephalusMacrocephalyShort neckHoloprosencephalyAbnormal cardiac septum morphologyAbnormality of the pancreasMeningoceleIntestinal malrotationAbnormality of the gallbladderAplasia/Hypoplasia of the corpus callosumCryptorchidismHypospadiasWide mouthAbnormal cranial suture/fontanelle morphologyHypertelorism

Classification & Codes

MeSH Code

D057885

Orphanet Code

ORPHA:3376
triploid syndrome
MeSHD057885
OrphanetORPHA:3376
Treatments0 drug(s)
Symptoms on record34 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO