postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
ORPHA: 4776732 Treatments Available
Overview
human disease
Available Treatments (2)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Baclofen | Oral tablets 10mg, 20mg; Intrathecal injection 0.05mg/mL, 10mg/20mL | FDA Approved | 7 | 7d |
| tizanidine | oral tablet 2mg, 4mg; oral capsule 2mg, 4mg, 6mg | FDA Approved | 4 | 5d |
Clinical Presentation
Signs and symptoms associated with postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyLow-set earsHypotelorismDelayed speech and language developmentIntellectual disabilitySpastic paraplegiaDysarthriaGlobal developmental delayGait disturbanceHyperreflexiaBroad-based gaitDroolingBabinski signSevere muscular hypotoniaNasogastric tube feeding in infancyNarrow foreheadSeizureTremorFailure to thriveHypoplasia of the corpus callosumFebrile seizure (within the age range of 3 months to 6 years)Abnormal CNS myelination
Classification & Codes
Orphanet Code
ORPHA:477673postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
| Orphanet | ORPHA:477673 |
| Treatments | 2 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO