Christianson syndrome
MeSH: C537450ORPHA: 85278
Overview
rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures
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 Christianson syndrome, sourced from HPO and Orphanet clinical annotations.
DroolingEEG abnormalityHyperkinetic movementsSecondary microcephalyAplasia/Hypoplasia of the corpus callosumFeeding difficulties in infancyFeeding difficultiesConspicuously happy dispositionDeeply set eyeOsteoporosisSleep disturbanceScoliosisDecreased muscle massEpileptic encephalopathyNarrow faceLong faceMacrotiaStrabismusThick eyebrowAbsent speechTruncal ataxiaProfound intellectual disabilityGeneralized-onset seizureDevelopmental regressionNeuronal loss in central nervous systemCachexiaSevere global developmental delayOpen mouthMicrocephalyOphthalmoplegiaNystagmusAutismMotor stereotypyInappropriate laughterAbnormal thorax morphologyPectus excavatumAdducted thumbSeizureCerebellar atrophyFailure to thriveDysphagiaConstipationGastroesophageal refluxGait ataxiaVentriculomegalyCerebral cortical atrophyDelayed gross motor developmentMutismJoint hypermobility
Classification & Codes
MeSH Code
C537450Orphanet Code
ORPHA:85278Christianson syndrome
| MeSH | C537450 |
| Orphanet | ORPHA:85278 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO