Edwards syndrome
MeSH: D000073842ORPHA: 3380
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 Edwards syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismNarrow palateDolichocephalyProminent occiputMicroretrognathiaHypertelorismTriangular faceHypotoniaGlobal developmental delayHypertoniaGrowth delayIntrauterine growth retardationOmphaloceleVentricular septal defectAtrial septal defectNarrow pelvis boneDeviation of fingerShort statureCachexiaSevere intellectual disabilityAbnormal cardiovascular system morphologyCamptodactyly of fingerCognitive impairmentPointed helixAbnormal morphology of female internal genitaliaHorseshoe kidneyHydronephrosisCleft palateAbnormal cranial suture/fontanelle morphologyBrachycephalyMicrocephalyEpicanthusChoanal atresiaBlepharophimosisCongenital diaphragmatic herniaSingle umbilical arterySeizurePolyhydramniosTalipes equinovarusSmall nailGastroesophageal refluxAnal atresiaEsophageal atresiaChoroid plexus cystDelayed skeletal maturationCentral apneaAbnormal hip bone morphologyHypoplasia of the nasal boneBilateral single transverse palmar creasesFeeding difficulties in infancyOverlapping fingersIncreased nuchal translucencyAbnormality of the upper urinary tractNon-midline cleft of the upper lipHerniaCataractMicrophthalmiaIris colobomaAbnormal rib morphologyShort sternumHand clenchingCerebellar hypoplasiaHoloprosencephalyPyloric stenosisChiari malformationAnencephalySpina bifidaAbnormality of the lower limbAbnormality of the upper limbAplasia/Hypoplasia of the radiusAplasia/Hypoplasia of the corpus callosumAbnormal retinal pigmentationCorneal opacityPosteriorly rotated ears
Classification & Codes
MeSH Code
D000073842Orphanet Code
ORPHA:3380Edwards syndrome
| MeSH | D000073842 |
| Orphanet | ORPHA:3380 |
| Treatments | 0 drug(s) |
| Symptoms on record | 74 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO