Crisponi syndrome
MeSH: C536214ORPHA: 15451 Treatment Available
Overview
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Baclofen | Oral tablets 10mg, 20mg; Intrathecal injection 0.05mg/mL, 10mg/20mL | FDA Approved | 7 | 7d |
Clinical Presentation
Signs and symptoms associated with Crisponi syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthHigh palateFull cheeksLong philtrumMicrognathiaWide noseAnteverted naresHypohidrosisHyperhidrosisSeizureHypertoniaFlexion contractureLimitation of joint mobilitySudden cardiac deathMalignant hyperthermiaRespiratory insufficiencyScoliosisKyphosisFeeding difficultiesCamptodactyly of fingerCognitive impairmentLarge face
Classification & Codes
MeSH Code
C536214Orphanet Code
ORPHA:1545Crisponi syndrome
| MeSH | C536214 |
| Orphanet | ORPHA:1545 |
| Treatments | 1 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO