intellectual disability-strabismus syndrome
ORPHA: 363528
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 intellectual disability-strabismus syndrome, sourced from HPO and Orphanet clinical annotations.
StrabismusIntellectual disabilityFailure to thriveMicrocephalyEpicanthusUpslanted palpebral fissureDelayed speech and language developmentSpasticityGlobal developmental delayShort statureDepressed nasal bridgeFloppy infantProminent foreheadAbnormal brain morphologyCryptorchidismHypospadiasMicropenisWide mouthHigh palateLong faceHypertelorismFacial asymmetrySloping foreheadMicrognathiaHigh foreheadHearing impairmentLow-set earsMacrotiaRecurrent otitis mediaNarrow nasal ridgeProminent noseShort neckTelecanthusSynophrysAggressive behaviorHyperactivityDecreased response to growth hormone stimulation testHypohidrosisSeizurePlagiocephalyLimitation of joint mobilityIntrauterine growth retardationPolyhydramniosAtrial septal defectPatent ductus arteriosusTalipes equinovarusAchilles tendon contractureRocker bottom footGastroesophageal refluxHighly arched eyebrowShort noseDiffuse demyelination of the cerebral white matterMedullary nephrocalcinosisBrain atrophyDelayed myelinationThick vermilion borderDecreased circulating serum insulin-like growth factor 1 concentrationRecurrent gastroenteritisImpulsivityAbnormality of the dentitionCongenital diaphragmatic herniaHypothyroidismAgenesis of corpus callosumGait disturbanceHypoplasia of the corpus callosumPostural instabilityCongenital finger flexion contracturesJoint contracture of the handPeripheral neuropathyFeeding difficultiesChronic constipationArachnoid cyst
Classification & Codes
Orphanet Code
ORPHA:363528intellectual disability-strabismus syndrome
| Orphanet | ORPHA:363528 |
| Treatments | 0 drug(s) |
| Symptoms on record | 72 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO