Baraitser-Winter syndrome
ORPHA: 2995
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 Baraitser-Winter syndrome, sourced from HPO and Orphanet clinical annotations.
EcholaliaWide mouthThin vermilion borderRetrognathiaCoarse facial featuresEpicanthusFull cheeksPointed chinHypertelorismLong philtrumMicrognathiaWide nasal bridgeDepressed nasal tipWide noseDownslanted palpebral fissuresTelecanthusPtosisIris colobomaLong palpebral fissureIntellectual disabilitySeizureGlobal developmental delayPachygyriaSpecific learning disabilityLissencephalyFailure to thriveGrowth delayShort columellaPolymicrogyriaMutismAphasiaHighly arched eyebrowSkeletal dysplasiaProminent metopic ridgeFeeding difficultiesEuryblepharonOsteochondrosisHydroureterHydronephrosisLarge fontanellesTrigonocephalyMicrocephalyDelayed cranial suture closureProminent noseShort neckHeterochromia iridisJoint stiffnessCerebral cortical atrophyLow posterior hairlineLong noseAbnormality of the upper urinary tractSubcortical cerebral atrophyRetinoschisisCerebral cortical hemiatrophyWebbed neckMicrocorneaOptic disc colobomaTransient ischemic attackScoliosisDuplication of thumb phalanxPalpebral edema
Classification & Codes
Orphanet Code
ORPHA:2995Baraitser-Winter syndrome
| Orphanet | ORPHA:2995 |
| Treatments | 0 drug(s) |
| Symptoms on record | 61 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO