CK syndrome
ORPHA: 251383
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 CK syndrome, sourced from HPO and Orphanet clinical annotations.
High palateMicrocephalyMalar flatteningNarrow faceLong faceEpicanthusMicroretrognathiaPosteriorly rotated earsProminent nasal bridgeStrabismusUpslanted palpebral fissureDental crowdingIrritabilityDelayed speech and language developmentIntellectual disabilitySeizureGlobal developmental delayPachygyriaSlender buildPolymicrogyriaSleep disturbanceAphasiaAbnormal cerebral cortex morphologyKyphoscoliosisLumbar hyperlordosisAlmond-shaped palpebral fissureLong toeAstheniaLong fingersAtypical behaviorAggressive behaviorHyperactivityGeneralized hypotoniaJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:251383CK syndrome
| Orphanet | ORPHA:251383 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO