Verheij syndrome
ORPHA: 508488
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 Verheij syndrome, sourced from HPO and Orphanet clinical annotations.
MicromeliaShort femurSpina bifida occultaDysplastic aortic valveCapillary hemangiomaSecondary microcephalyAtrioventricular canal defectBilateral microphthalmosShort 5th fingerBranchial cystShort halluxCleft maxillary alveolar ridgeLong toeEcholaliaSkin tagsNaevus flammeus of the eyelidMesiodensProminent foreheadHemifacial hypoplasiaInfancy onset short-trunk short statureEctopic posterior pituitaryHypoplastic aortic archBilateral renal hypoplasiaTicsLong fingersAbnormal cricoid cartilage morphologyGlobal developmental delayModerate intellectual disabilityShort statureThin upper lip vermilionEpicanthusFull cheeksSmooth philtrumSquare faceLong philtrumPosteriorly rotated earsWide nasal bridgeBroad nasal tipAnteverted naresShort neckAutistic behaviorAbnormality of the handJoint hypermobilityIntrauterine growth retardationAbnormal heart morphologyExpressive language delayClinodactyly of the 5th fingerShort middle phalanx of the 5th fingerReduced visual acuityPes valgusFeeding difficulties in infancyAsymmetry of the earsNasogastric tube feeding in infancyFinger clinodactylyInguinal herniaVesicoureteral refluxAbnormality of the kidneyUnilateral renal agenesisPelvic kidneyOval faceMicroretrognathiaNarrow foreheadRetinal colobomaStrabismusDeeply set eyeLong eyelashesThick eyebrowExotropiaUpslanted palpebral fissureOptic nerve hypoplasiaLow frustration toleranceHyperactivityPectus excavatumNarrow chestReduced eye contactCervical ribsSingle transverse palmar creaseSeizureGeneralized hypotoniaCongenital hip dislocationHip dysplasiaSmall for gestational ageOligohydramniosVentricular septal defectPatent ductus arteriosusTruncus arteriosusComplete atrioventricular canal defectCoarctation of aortaExocrine pancreatic insufficiencyPes planusRocker bottom footTalipesDysphagiaGastroesophageal refluxHypoplasia of the corpus callosumRespiratory distressAbnormal lung lobationGastrointestinal hemorrhageGlobal brain atrophyHighly arched eyebrowThoracic scoliosis
Classification & Codes
Orphanet Code
ORPHA:508488Verheij syndrome
| Orphanet | ORPHA:508488 |
| Treatments | 0 drug(s) |
| Symptoms on record | 101 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO