congenital insensitivity to pain with severe intellectual disability
ORPHA: 453510
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 congenital insensitivity to pain with severe intellectual disability, sourced from HPO and Orphanet clinical annotations.
StrabismusKeratitisSelf-mutilationSpecific learning disabilityDelayed CNS myelinationOsteomyelitisRecurrent fracturesPain insensitivityDecreased corneal reflexImpaired tactile sensationSevere global developmental delayFacial asymmetryMicrognathiaProminent noseSmall for gestational ageOligohydramniosTalipes equinovalgusRocker bottom footAbnormal facial shapeBilateral tonic-clonic seizureTibial bowingCongenital bilateral hip dislocationFloppy infantLimb undergrowthMultifocal epileptiform dischargesNasogastric tube feeding in infancySeesaw nystagmusShort palpebral fissureCorneal erosion
Classification & Codes
Orphanet Code
ORPHA:453510congenital insensitivity to pain with severe intellectual disability
| Orphanet | ORPHA:453510 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO