seizures-scoliosis-macrocephaly syndrome
ORPHA: 466926
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 seizures-scoliosis-macrocephaly syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentSeizureGlobal developmental delayReduced bone mineral densityCryptorchidismAbnormality of the kidneyMacrocephalyHypertelorismLong philtrumAbnormality of the outer earBulbous noseAutismAbnormality of the skinHypotoniaMild intellectual disabilityOverlapping toeNauseaConstipationGastroesophageal refluxBroad-based gaitModerate intellectual disabilityScoliosisAbnormal cardiovascular system morphologyMicrocephalyHigh foreheadPolyhydramniosAtrial septal defectFlat foreheadSevere intellectual disabilityProminent foreheadExostoses
Classification & Codes
Orphanet Code
ORPHA:466926seizures-scoliosis-macrocephaly syndrome
| Orphanet | ORPHA:466926 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO