Gabriele-de Vries syndrome
ORPHA: 506358
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 Gabriele-de Vries syndrome, sourced from HPO and Orphanet clinical annotations.
Thick lower lip vermilionMalar flatteningBroad foreheadBulbous noseGlobal developmental delayAbnormal facial shapePointed chinFacial asymmetryPosteriorly rotated earsStrabismusDownslanted palpebral fissuresPeriorbital fullnessAtypical behaviorDelayed speech and language developmentHypotoniaMild intellectual disabilityIntrauterine growth retardationModerate intellectual disabilityFeeding difficulties in infancyAbnormality of upper lip vermillionGastrostomy tube feeding in infancyDelayed ability to walkOral-pharyngeal dysphagiaCryptorchidismUreteropelvic junction obstructionHydronephrosisAbnormality of the dentitionHigh palateDolichocephalyFacial hypotoniaMicrognathiaLow-set earsAstigmatismTelecanthusPtosisHypermetropiaAutismAutistic behaviorAnxietyHypothyroidismDecreased response to growth hormone stimulation testHyperextensible skinAgenesis of corpus callosumDystoniaTremorAbsent speechCraniosynostosisSmall for gestational agePatent foramen ovaleHallux valgusSandal gapEsophageal atresiaHypoplasia of the corpus callosumVentriculomegalyGliosisFrontal upsweep of hairAbnormal cerebral white matter morphologyWaddling gaitRecurrent infectionsNeuroblastomaBreast hypoplasiaDistal arthrogryposisFinger joint hypermobilityAttention deficit hyperactivity disorderLacrimal duct stenosisDistal lower limb amyotrophyEbstein anomaly of the tricuspid valvePatellar subluxationSevere intellectual disabilitySydney creaseSevere global developmental delayDelayed myelinationSparse eyebrow
Classification & Codes
Orphanet Code
ORPHA:506358Gabriele-de Vries syndrome
| Orphanet | ORPHA:506358 |
| Treatments | 0 drug(s) |
| Symptoms on record | 73 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO