spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ORPHA: 447997
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 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentIntellectual disabilityHyperreflexiaHypotoniaMotor delayHypertoniaDysphagiaLower limb spasticityHypoplasia of the corpus callosumSecondary microcephalyPrimary microcephalyBrain atrophyUrinary incontinenceHypertelorismLow-set earsProtruding earWide nasal bridgeSynophrysMotor stereotypyIrritabilityHyperactivityAbnormal facial shapeGastroesophageal refluxBilateral tonic-clonic seizureClonusRecurrent respiratory infectionsHypsarrhythmiaMultiple joint contracturesMyoclonic spasmsDepressed nasal bridgeCerebral hypomyelinationGastrostomy tube feeding in infancyHair-pullingInfantile spasms
Classification & Codes
Orphanet Code
ORPHA:447997spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
| Orphanet | ORPHA:447997 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO